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Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

van der Linden TJ, Arts RJW, Biggs CM, Habibi L, Batlle-Masó L, van Laarhoven A, Scheepmaker LM, Yousefi P, Gómez-Raccio AC, Alizadeh Z, Mulders-Manders CM, Oever JT, Schuurs-Hoeijmakers J, Alipour-Olyei N, Molitor A, Di Giovanni D, Carapito R, Bahram S, Seminario G, Bezrodnik L, Momenilandi M, Shahrooei M, Bustamante J, Aksentijevich I, Kastner D, Fazlollahi MR, Colobran R, Turvey SE, van de Veerdonk FL, Casanova JL, Boisson B, Bardoel BW, Spaan AN

J Hum Immun. 2025 11 3;1(4):

Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.

Rajabi E, Kheirabadi MC, Olyaei NA, Molitor A, Khorshidi MSM, Heidari M, Abbasi A, Rostami P, Mahdavi M, Carapito R, Shahrooei M, Bahram S, Parvaneh N

BMC Immunol. 2025 07 26;26(1):54

A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review.

Norouzi-Barough L, Olyaei NA, Carapito R, Molitor A, Biglari S, Poostiyan N, Shahrooei M, Vahidnezhad H, Tabatabaiefar MA, Bahram S, Sherkat R

Arch Dermatol Res. 2025 04 7;317(1):681

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

Badalzadeh M, Soleimani Bavani M, Alizadeh Z, Mirmoghtadaei M, Shakerian L, Bahram S, Molitor A, Carapito R, Moradi L, Razaghian A, Assari R, Movahedi M, Shariat M, Houshmand M, Habibi L, Hamidieh AA, Ashrafi MR, Fazlollahi MR, Pourpak Z

Iran J Allergy Asthma Immunol. 2025 03 10;24(2):187-197

Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism.

Arbogast F, Sal-Carro R, Boufenghour W, Frenger Q, Bouis D, Filippi De La Palavesa L, Fauny JD, Griso O, Puccio H, Fima R, Huby T, Gautier EL, Molitor A, Carapito R, Bahram S, Romani N, Clausen BE, Voisin B, Mueller CG, Gros F, Flacher V

J Cell Biol. 2025 02 3;224(2):

Evolution of anti-MICA antibodies after imlifidase infusion for a high immunological risk kidney transplantation.

Beaudrey T, Apithy MJ, Olagne J, Lemonnier L, Perrin P, Vargas GG, Jahn I, Radosavljevic M, Bahram S, Carapito R, Caillard S

Hum Immunol. 2025 01 17;86(2):111213

RICTOR variants are associated with neurodevelopmental disorders.

Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S

Eur J Hum Genet. 2024 12 30;:

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.

Tajik S, Fazlollahi MR, Alizadeh Z, Badalzadeh M, Houshmand M, Razaghian A, Bahram S, Molitor A, Carapito R, Shariat M, Hamidieh AA, Behniafard N, Abdolkarimi B, Rostami T, Moin M, Pourpak Z

Pediatr Allergy Immunol. 2024 11;35(11):e14264

A pleiotropic recurrent dominant variant causes a complex multisystemic disease.

Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S

Sci Adv. 2024 09 13;10(37):eado5545

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL

Nat Immunol. 2024 04 12;:

An immunogenomic exome landscape of triple positive primary antiphospholipid patients.

Guffroy A, Jacquel L, Seeleuthner Y, Paul N, Poindron V, Maurier F, Delannoy V, Voegeli AC, Zhang P, Nespola B, Molitor A, Apithy MJ, Soulas-Sprauel P, Martin T, Voll RE, Bahram S, Gies V, Casanova JL, Cobat A, Boisson B, Carapito R, Korganow AS

Genes Immun. 2024 01 24;:

[MICA, a novel histocompatibility antigen in kidney transplantation].

Carapito R, Bahram S

Med Sci (Paris). 2024 01;40(1):102-103

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Corcini Berndt M, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Colombo CNJ, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Pahari S, Schlesinger LS, Marr N, Bugonovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J

Cell. 2023 12 20;:

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C

Clin Immunol. 2023 09 21;:109777

Multiomics of three hematological malignancies in a patient reveal their origin from clonal hematopoietic stem cells.

Mayeur S, Molitor A, Miguet L, Rigolot L, Naegely L, Stemmelen T, Meyer S, Toussaint E, Vallat L, Eischen A, Chenard MP, Tavian M, Bahram S, Carapito R, Nicolae A

Blood Cancer J. 2023 08 9;13(1):118

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.

Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, de Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z

Genes Immun. 2023 07 29;:

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.

Fazlollahi MR, Hamidieh AA, Moradi L, Shokouhi Shoormati R, Sabetkish N, Esmaeili B, Badalzadeh M, Alizadeh Z, Shamlou S, Movahedi M, Mahloujirad M, Razaghian A, Arshi S, Gharagozlou M, Kalantari A, Bemanian MH, Safari M, Heidarzadeh Arani M, Nabavi M, Parvaneh N, Sadeghi-Shabestari M, Behfar M, Behniafard N, Sherkat R, Ahmadian Heris J, Shariat M, Radmehr R, Houshmand M, Kazemnejad A, Molitor A, Carapito R, Bahram S, Pourpak Z, Moin M

Pediatr Allergy Immunol. 2023 07;34(7):e13990

Measuring the transcriptome-wide effects of aging on murine adipocytes using RNAseq.

De Cauwer A, Pichot A, Molitor A, Stemmelen T, Carapito R, Bahram S, Georgel P

STAR Protoc. 2023 07 1;4(3):102397

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.

Tajik S, Badalzadeh M, Houshmand M, Alizadeh Z, Moradi L, Hamidieh AA, Shafiei A, Heris JA, Bahram S, Molitor A, Carapito R, Moin M, Fazlollahi MR, Pourpak Z

Scand J Immunol. 2023 05;97(5):e13264

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.

Mayeur S, Lhermitte B, Gantzer J, Molitor A, Stemmelen T, Meyer S, Kolmer A, Kurtz JE, Bahram S, Carapito R

Cold Spring Harb Mol Case Stud. 2023 04;9(2):

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, ,Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB

Am J Hum Genet. 2023 03 2;110(3):548

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.

Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, Lévy R, Le Voyer T, Zhang P, Maglorius Renkilaraj MRL, Arango-Franco CA, Pelham S, Seeleuthner Y, Pochon M, Ata MMA, Al Ali F, Migaud M, Soudée C, Kochetkov T, Molitor A, Carapito R, Bahram S, Boisson B, Fieschi C, Mansouri D, Marr N, Okada S, Shahrooei M, Parvaneh N, Chavoshzadeh Z, Cobat A, Bogunovic D, Abel L, Tangye SG, Ma CS, Béziat V, Sallusto F, Boisson-Dupuis S, Bustamante J, Casanova JL, Puel A

Sci Immunol. 2023 02 17;8(80):eabq5204

Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study.

Mahi SL, Bahram S, Harambat J, Allard L, Merlin E, Belot A, Ranchin B, Tenenbaum J, Magnavacca M, Haumesser L, Allain-Launay E, Pietrement C, Flodrops H, Ruin M, Dossier C, Decramer S, Ballot-Schmitt C, Boyer OG, Seugé L, Ulinski T, Zaloszyc A

Pediatr Nephrol. 2023 01 9;:

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, ,Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB

Am J Hum Genet. 2022 12 15;:

Dicer1 deficient mice exhibit premature aging and metabolic perturbations in adipocytes.

De Cauwer A, Loustau T, Erne W, Pichot A, Molitor A, Stemmelen T, Carapito R, Orend G, Bahram S, Georgel P

iScience. 2022 10 21;25(10):105149

Novel chimeric proteins mimicking SARS-CoV-2 spike epitopes with broad inhibitory activity.

Cano-Muñoz M, Polo-Megías D, Cámara-Artigas A, Gavira JA, López-Rodríguez MJ, Laumond G, Schmidt S, Demiselle J, Bahram S, Moog C, Conejero-Lara F

Int J Biol Macromol. 2022 10 8;:

Identification of early-induced broadly neutralizing activities against transmitted founder HIV strains.

Lucas J, Lin LY, Paul N, Laumond G, Klingler J, Schmidt S, Frappier J, Essat A, Meyer L, Gordon AC, Goujard C, Bahram S, Moog C,

AIDS. 2022 08 24;:

Inactivation of Osteoblast PKC Signaling Reduces Cortical Bone Mass and Density and Aggravates Renal Osteodystrophy in Mice with Chronic Kidney Disease on High Phosphate Diet.

Zaloszyc A, Choquet P, Sayeh A, Bartosova M, Schaefer B, Huegel U, Aubertin-Kirch G, Healy C, Severac F, Rizzo S, Boivin G, Schaefer F, Fischbach M, Bacchetta J, Bahram S, Schmitt CP

Int J Mol Sci. 2022 06 8;23(12):

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

Marx D, Dupuis A, Eckly AE, Molitor A, Olagne J, Touchard G, Kaaki S, Ory C, Faller AL, Gérard B, Cotter M, Westerberg L, Keszei M, Moulin B, Gachet C, Caillard S, Bahram S, Carapito R

Blood Adv. 2022 Apr 11;:

The MHC class I MICA gene is a histocompatibility antigen in kidney transplantation.

Carapito R, Aouadi I, Verniquet M, Untrau M, Pichot A, Beaudrey T, Bassand X, Meyer S, Faucher L, Posson J, Morlon A, Kotova I, Delbos F, Walencik A, Aarnink A, Kennel A, Suberbielle C, Taupin JL, Matern BM, Spierings E, Congy-Jolivet N, Essaydi A, Perrin P, Blancher A, Charron D, Cereb N, Maumy-Bertrand M, Bertrand F, Garrigue V, Pernin V, Weekers L, Naesens M, Kamar N, Legendre C, Glotz D, Caillard S, Ladrière M, Giral M, Anglicheau D, Süsal C, Bahram S

Nat Med. 2022 Mar 14;:

A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.

Khan A, Molitor A, Mayeur S, Zhang G, Rinaldi B, Lannes B, Lhermitte B, Umair M, Arold ST, Friant S, Rastegar S, Anheim M, Bahram S, Carapito R

Mov Disord. 2021 Nov 24;:

Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.

Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S

Sci Transl Med. 2021 Oct 26;:eabj7521

Distinct antibody profiles in HLA-B57+, HLA-B57- HIV controllers and chronic progressors.

Klingler J, Paul N, Laumond G, Schmidt S, Mayr LM, Decoville T, Lambotte O, Autran B, Bahram S, Moog C,

AIDS. 2021 Sep 27;:

Refining "Long-COVID" by a Prospective Multimodal Evaluation of Patients with Long-Term Symptoms Attributed to SARS-CoV-2 Infection.

Scherlinger M, Felten R, Gallais F, Nazon C, Chatelus E, Pijnenburg L, Mengin A, Gras A, Vidailhet P, Arnould-Michel R, Bibi-Triki S, Carapito R, Trouillet-Assant S, Perret M, Belot A, Bahram S, Arnaud L, Gottenberg JE, Fafi-Kremer S, Sibilia J

Infect Dis Ther. 2021 Jul 10;:

Impairing flow-mediated endothelial remodeling reduces extravasation of tumor cells.

Follain G, Osmani N, Gensbittel V, Asokan N, Larnicol A, Mercier L, Garcia-Leon MJ, Busnelli I, Pichot A, Paul N, Carapito R, Bahram S, Lefebvre O, Goetz JG

Sci Rep. 2021 Jun 23;11(1):13144

Temporal multiomic modeling reveals a B-cell receptor proliferative program in chronic lymphocytic leukemia.

Schleiss C, Carapito R, Fornecker LM, Muller L, Paul N, Tahar O, Pichot A, Tavian M, Nicolae A, Miguet L, Mauvieux L, Herbrecht R, Cianferani S, Freund JN, Carapito C, Maumy-Bertrand M, Bahram S, Bertrand F, Vallat L

Leukemia. 2021 Apr 8;:

A Translational Investigation of Interferon-α and STAT1 Signaling in Endothelial Cells during Septic Shock Provides Therapeutic Perspectives.

Clere-Jehl R, Merdji H, Kassem M, Macquin C, De Cauwer A, Sibony A, Kurihara K, Minniti L, Abou Fayçal C, Bahram S, Meziani F, Helms J, Georgel P

Am J Respir Cell Mol Biol. 2021 Apr 2;:

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.

Marx D, Caillard S, Olagne J, Moulin B, Hannedouche T, Touchard G, Dupuis A, Gachet C, Molitor A, Bahram S, Carapito R

Mol Genet Genomic Med. 2021 Mar 29;:e1658

Aryl hydrocarbon receptor (Ahr)-dependent Il-22 expression by type 3 innate lymphoid cells control of acute joint inflammation.

Nehmar R, Fauconnier L, Alves-Filho J, Togbe D, DeCauwer A, Bahram S, Le Bert M, Ryffel B, Georgel P

J Cell Mol Med. 2021 Mar 18;:

NKG2D ligands in inflammatory joint diseases: analysis in human samples and mouse models.

Mariotte A, Bernardi L, Macquin C, DeCauwer A, Kotova I, Blüml S, Noël D, Scanu A, Punzi L, Carapito R, Sibilia J, Bahram S, Georgel P

Clin Exp Rheumatol. 2021 Jan 8;:

Frequent, quantitative bone planar scintigraphy for determination of bone anabolism in growing mice.

Zaloszyc A, Schmitt CP, Sayeh A, Higel L, Gros CI, Bornert F, Aubertin-Kirch G, Dillenseger JP, Goetz C, Constantinesco A, Fischbach M, Bahram S, Choquet P

PeerJ. 2021 ;9:e12355

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S

J. Exp. Med.. 2020 Dec 7;217(12):

SRP54 mutations induce Congenital Neutropenia via dominant-negative effects on XBP1 splicing.

Schürch C, Schaefer T, Müller JS, Hanns P, Arnone M, Dumlin A, Schärer J, Sinning I, Wild K, Skokowa J, Welte K, Carapito R, Bahram S, Konantz M, Lengerke C

Blood. 2020 Nov 23;:

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.

Juaire KD, Lapouge K, Becker MMM, Kotova I, Michelhans M, Carapito R, Wild K, Bahram S, Sinning I

Structure. 2020 Oct 13;:

SelectBoost: a general algorithm to enhance the performance of variable selection methods.

Bertrand F, Aouadi I, Jung N, Carapito R, Vallat L, Bahram S, Maumy-Bertrand M

Bioinformatics. 2020 Oct 5;:

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.

Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A

BMC Med. Genet.. 2020 Sep 17;21(1):182

Improvement of therapy-induced myelodysplastic syndrome by infusion of autologous CD34-positive hematopoietic progenitor cells without chemotherapy.

Alary AS, Vignon M, Carapito R, Halabi N, Willems L, Green A, Chapuis N, Heshmati F, Cuccuini W, Kaltenbach S, Radford-Weiss I, Kosmider O, Bouscary D, Bahram S, Rafii A, Tamburini J

Leuk. Lymphoma. 2020 Aug 28;:1-4

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.

Meguro A, Ishihara M, Petrek M, Yamamoto K, Takeuchi M, Mrazek F, Kolek V, Benicka A, Yamane T, Shibuya E, Yoshino A, Isomoto A, Ota M, Yatsu K, Shijubo N, Nagai S, Yamaguchi E, Yamaguchi T, Namba K, Kaburaki T, Takase H, Morimoto SI, Hori J, Kono K, Goto H, Suda T, Ikushima S, Ando Y, Takenaka S, Takeuchi M, Yuasa T, Sugisaki K, Ohguro N, Hiraoka M, Kitaichi N, Sugiyama Y, Horita N, Asukata Y, Kawagoe T, Kimura I, Ishido M, Inoko H, Mochizuki M, Ohno S, Bahram S, Remmers EF, Kastner DL, Mizuki N

Commun Biol. 2020 Aug 21;3(1):465

A FcɣRIIa polymorphism has a HLA-B57 and HLA-B27 independent effect on HIV disease outcome.

Carapito R, Mayr L, Molitor A, Verniquet M, Schmidt S, Tahar O, Partisani M, Rey D, Lambotte O, Bahram S, Moog C

Genes Immun.. 2020 Aug 5;:

JAK-STAT Targeting Offers Novel Therapeutic Opportunities in Sepsis.

Clere-Jehl R, Mariotte A, Meziani F, Bahram S, Georgel P, Helms J

Trends Mol Med. 2020 Jul 3;:

Compatibility at amino acid position 98 of MICB reduces the incidence of graft-versus-host disease in conjunction with the CMV status.

Carapito R, Aouadi I, Pichot A, Spinnhirny P, Morlon A, Kotova I, Macquin C, Rolli V, Cesbron A, Gagne K, Oudshoorn M, van der Holt B, Labalette M, Spierings E, Picard C, Loiseau P, Tamouza R, Toubert A, Parissiadis A, Dubois V, Paillard C, Maumy-Bertrand M, Bertrand F, von dem Borne PA, Kuball JHE, Michallet M, Lioure B, Peffault de Latour R, Blaise D, Cornelissen JJ, Yakoub-Agha I, Claas F, Moreau P, Charron D, Mohty M, Morishima Y, Socié G, Bahram S

Bone Marrow Transplant.. 2020 Apr 14;:

Protocol for TRAUMADORNASE: a prospective, randomized, multicentre, double-blinded, placebo-controlled clinical trial of aerosolized dornase alfa to reduce the incidence of moderate-to-severe hypoxaemia in ventilated trauma patients.

Pottecher J, Noll E, Borel M, Audibert G, Gette S, Meyer C, Gaertner E, Legros V, Carapito R, Uring-Lambert B, Sauleau E, Land WG, Bahram S, Meyer A, Geny B, Diemunsch P

Trials. 2020 Mar 18;21(1):274

A mouse model of MSU-induced acute inflammation suggests imiquimod-dependent targeting of as relevant therapy for gout patients.

Mariotte A, De Cauwer A, Po C, Abou-Faycal C, Pichot A, Paul N, Aouadi I, Carapito R, Frisch B, Macquin C, Chatelus E, Sibilia J, Armspach JP, Bahram S, Georgel P

Theranostics. 2020 ;10(5):2158-2171

Capturing Differential Allele-Level Expression and Genotypes of All Classical HLA Loci and Haplotypes by a New Capture RNA-Seq Method.

Yamamoto F, Suzuki S, Mizutani A, Shigenari A, Ito S, Kametani Y, Kato S, Fernandez-Viña M, Murata M, Morishima S, Morishima Y, Tanaka M, Kulski JK, Bahram S, Shiina T

Front Immunol. 2020 ;11:941

High-Throughput Genotyping of Over Two Million Samples: Workflow and Allele Frequencies.

Klussmeier A, Massalski C, Putke K, Schäfer G, Sauter J, Schefzyk D, Pruschke J, Hofmann J, Fürst D, Carapito R, Bahram S, Schmidt AH, Lange V

Front Immunol. 2020 ;11:314

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Molitor A, Prud'homme T, Miao Z, Conrad S, Bloch-Zupan A, Pichot A, Hanauer A, Isidor B, Bahram S, Carapito R

J. Hum. Genet.. 2019 May 8;:

HLA*LA - HLA typing from linearly projected graph alignments.

Dilthey AT, Mentzer AJ, Carapito R, Cutland C, Cereb N, Madhi SA, Rhie A, Koren S, Bahram S, McVean G, Phillippy AM

Bioinformatics. 2019 Apr 3;:

Multi-omics dataset to decipher the complexity of drug resistance in diffuse large B-cell lymphoma.

Fornecker LM, Muller L, Bertrand F, Paul N, Pichot A, Herbrecht R, Chenard MP, Mauvieux L, Vallat L, Bahram S, Cianférani S, Carapito R, Carapito C

Sci Rep. 2019 Jan 29;9(1):895

BCR-associated factors driving chronic lymphocytic leukemia cells proliferation ex vivo.

Schleiss C, Ilias W, Tahar O, Güler Y, Miguet L, Mayeur-Rousse C, Mauvieux L, Fornecker LM, Toussaint E, Herbrecht R, Bertrand F, Maumy-Bertrand M, Martin T, Fournel S, Georgel P, Bahram S, Vallat L

Sci Rep. 2019 Jan 24;9(1):701

Update on Fc-Mediated Antibody Functions Against HIV-1 Beyond Neutralization.

Su B, Dispinseri S, Iannone V, Zhang T, Wu H, Carapito R, Bahram S, Scarlatti G, Moog C

Front Immunol. 2019 ;10:2968

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, ,,Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S

Am. J. Hum. Genet.. 2018 Dec 26;:

An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides.

Domingo-Calap P, Schubert B, Joly M, Solis M, Untrau M, Carapito R, Georgel P, Caillard S, Fafi-Kremer S, Paul N, Kohlbacher O, González-Candelas F, Bahram S

PLoS Pathog.. 2018 Oct 18;14(10):e1007368

FACS - based isolation of human eosinophils allows purification of high quality RNA.

Wacht G, Poirot A, Charles AL, Radosavljevic M, Uring-Lambert B, de Blay F, Geny B, Bahram S, Barnig C

J. Immunol. Methods. 2018 Sep 11;:

Multi-OMICS analyses unveil as a potential modifier gene in mevalonate kinase deficiency.

Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S

Ann. Rheum. Dis.. 2018 Jul 20;:

Distribution and reduction magnitude of HIV-DNA burden in CD4+ T cell subsets depend on art initiation timing.

Gantner P, Barnig C, Partisani M, Lee GQ, Beck-Wirth G, Faller JP, Martinot M, Mosheni-Zadeh M, Cheneau C, Batard ML, Fischer P, Fuchs A, Uring-Lambert B, Bahram S, Rey D, Fafi-Kremer S

AIDS. 2018 Apr 24;32(7):921-926

Zinc-Alpha-2-Glycoprotein in Inflammatory Bowel Disease.

Rolli V, Macquin C, Kokten T, Hablot J, Ndiaye NC, Netter P, Bahram S, Jouzeau JY, Peyrin-Biroulet L, Georgel P, Moulin D

Inflamm. Bowel Dis.. 2018 Apr 23;24(5):e10

HIV transmission from infected CD4+ T cells to allogenic T and dendritic cells is inhibited by broadly neutralizing antibodies.

Ducloy C, Su B, Mayr L, Klingler J, Decoville T, Schmidt S, Laumond G, Salomé N, Bahram S, Moog C

AIDS. 2018 Apr 19;:

Hemodynamic Forces Tune the Arrest, Adhesion, and Extravasation of Circulating Tumor Cells.

Follain G, Osmani N, Azevedo AS, Allio G, Mercier L, Karreman MA, Solecki G, Garcia Leòn MJ, Lefebvre O, Fekonja N, Hille C, Chabannes V, Dollé G, Metivet T, Hovsepian F, Prudhomme C, Pichot A, Paul N, Carapito R, Bahram S, Ruthensteiner B, Kemmling A, Siemonsen S, Schneider T, Fiehler J, Glatzel M, Winkler F, Schwab Y, Pantel K, Harlepp S, Goetz JG

Dev. Cell. 2018 Apr 9;45(1):33-52.e12

Therapeutic Perspectives for Interferons and Plasmacytoid Dendritic Cells in Rheumatoid Arthritis.

Nehmar R, Mariotte A, de Cauwer A, Sibilia J, Bahram S, Georgel P

Trends Mol Med. 2018 Apr;24(4):338-347

DICER1: A Key Player in Rheumatoid Arthritis, at the Crossroads of Cellular Stress, Innate Immunity, and Chronic Inflammation in Aging.

De Cauwer A, Mariotte A, Sibilia J, Bahram S, Georgel P

Front Immunol. 2018 ;9:1647

Neutralizing Antibody-Mediated Response and Risk of BK Virus-Associated Nephropathy.

Solis M, Velay A, Porcher R, Domingo-Calap P, Soulier E, Joly M, Meddeb M, Kack-Kack W, Moulin B, Bahram S, Stoll-Keller F, Barth H, Caillard S, Fafi-Kremer S

J. Am. Soc. Nephrol.. 2018 Jan;29(1):326-334

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S

J. Clin. Invest.. 2017 Oct;:

Non-neutralizing Antibodies Targeting the V1V2 Domain of HIV Exhibit Strong Antibody-Dependent Cell-mediated Cytotoxic Activity.

Mayr LM, Decoville T, Schmidt S, Laumond G, Klingler J, Ducloy C, Bahram S, Zolla-Pazner S, Moog C

Sci Rep. 2017 Oct;7(1):12655

Therapeutical modulation of plasmacytoid dendritic cells in experimental arthritis.

Nehmar R, Alsaleh G, Voisin B, Flacher V, Mariotte A, Saferding V, Puchner A, Niederreiter B, Vandamme T, Schabbauer G, Kastner P, Chan S, Kirstetter P, Holcmann M, Mueller C, Sibilia J, Bahram S, Blüml S, Georgel P

. 2017 Aug;:

RXRB is a MHC-encoded susceptibility gene associated with anti-topoisomerase I antibody-positive systemic sclerosis.

Oka A, Asano Y, Hasegawa M, Fujimoto M, Ishikawa O, Kuwana M, Kawaguchi Y, Yamamoto T, Takahashi H, Goto D, Endo H, Jinnin M, Mano S, Hosomichi K, Mabuchi T, Ueda MT, Nakagawa S, Beck S, Bahram S, Takehara K, Sato S, Ihn H

J. Invest. Dermatol.. 2017 May;:

A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA.

Carapito R, Gottenberg JE, Kotova I, Untrau M, Michel S, Naegely L, Aouadi I, Kwemou M, Paul N, Pichot A, Locke J, Bowman SJ, Griffiths B, Sivils KL, Sibilia J, Inoko H, Micelli-Richard C, Nocturne G, Ota M, Ng WF, Mariette X, Bahram S

Hum. Mol. Genet.. 2017 Apr;:

Increased Extravascular Lung Water and Plasma Biomarkers of Acute Lung Injury Precede Oxygenation Impairment in Primary Graft Dysfunction After Lung Transplantation.

Pottecher J, Roche AC, Dégot T, Helms O, Hentz JG, Schmitt JP, Falcoz PE, Santelmo N, Levy F, Collange O, Uring-Lambert B, Bahram S, Schaeffer M, Meyer N, Geny B, Lassalle P, Diemunsch P, Massard G, Kessler R, Steib A,

Transplantation. 2017 01;101(1):112-121

Natural Killer Group 2, Member D/NKG2D Ligands in Hematopoietic Cell Transplantation.

Carapito R, Aouadi I, Ilias W, Bahram S

Front Immunol. 2017 ;8:368

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, Ory B, Isidor B, Bahram S

Eur. J. Hum. Genet.. 2016 Dec;24(12):1746-1751

Next-Generation Sequencing of the HLA locus: Methods and impacts on HLA typing, population genetics and disease association studies.

Carapito R, Radosavljevic M, Bahram S

Hum. Immunol.. 2016 Nov;77(11):1016-1023

The TRANSPLANTEX initiative.

Bahram S, Carapito R, Gourraud PA, Charron D

Hum. Immunol.. 2016 Nov;77(11):1005-1007

Matching for the nonconventional MHC-I MICA gene significantly reduces the incidence of acute and chronic GVHD.

Carapito R, Jung N, Kwemou M, Untrau M, Michel S, Pichot A, Giacometti G, Macquin C, Ilias W, Morlon A, Kotova I, Apostolova P, Schmitt-Graeff A, Cesbron A, Gagne K, Oudshoorn M, van der Holt B, Labalette M, Spierings E, Picard C, Loiseau P, Tamouza R, Toubert A, Parissiadis A, Dubois V, Lafarge X, Maumy-Bertrand M, Bertrand F, Vago L, Ciceri F, Paillard C, Querol S, Sierra J, Fleischhauer K, Nagler A, Labopin M, Inoko H, von dem Borne PA, Kuball J, Ota M, Katsuyama Y, Michallet M, Lioure B, Peffault de Latour R, Blaise D, Cornelissen JJ, Yakoub-Agha I, Claas F, Moreau P, Milpied N, Charron D, Mohty M, Zeiser R, Socié G, Bahram S

Blood. 2016 Oct;128(15):1979-1986

Reduced DICER1 Expression Bestows Rheumatoid Arthritis Synoviocytes Proinflammatory Properties and Resistance to Apoptotic Stimuli.

Alsaleh G, Nehmar R, Blüml S, Schleiss C, Ostermann E, Dillenseger JP, Sayeh A, Choquet P, Dembele D, Francois A, Salmon JH, Paul N, Schabbauer G, Bierry G, Meyer A, Gottenberg JE, Haas G, Pfeffer S, Vallat L, Sibilia J, Bahram S, Georgel P

. 2016 Aug;68(8):1839-48

HLA genes as modifiers of response to IFN-β-1a therapy in relapsing-remitting multiple sclerosis.

Mazdeh M, Taheri M, Sayad A, Bahram S, Omrani MD, Movafagh A, Inoko H, Akbari MT, Noroozi R, Hajilooi M, Solgi G

Pharmacogenomics. 2016 Apr;17(5):489-98

Back to the future: bacteriophages as promising therapeutic tools.

Domingo-Calap P, Georgel P, Bahram S

HLA. 2016 Mar;87(3):133-40

Dermatomyositis flare on imiquimod therapy highlights a crucial role of aberrant TLR7 signalling.

Meyer A, Alsaleh G, Heuschling C, Gottenberg JE, Georgel P, Geny B, Bahram S, Sibilia J

RMD Open. 2016 ;2(2):e000294

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

Messer L, Alsaleh G, Georgel P, Carapito R, Waterham HR, Dali-Youcef N, Bahram S, Sibilia J

RMD Open. 2016 ;2(1):e000196

Sequence Variation in Amplification Target Genes and Standards Influences Interlaboratory Comparison of BK Virus DNA Load Measurement.

Solis M, Meddeb M, Sueur C, Domingo-Calap P, Soulier E, Chabaud A, Perrin P, Moulin B, Bahram S, Stoll-Keller F, Caillard S, Barth H, Fafi-Kremer S,

J. Clin. Microbiol.. 2015 Dec;53(12):3842-52

Genetics, genomics, and evolutionary biology of NKG2D ligands.

Carapito R, Bahram S

Immunol Rev. 2015 Sep;267(1):88-116

Germline variation of TNFAIP3 in primary Sjogren's syndrome-associated lymphoma.

Nocturne G, Tarn J, Boudaoud S, Locke J, Miceli-Richard C, Hachulla E, Dubost JJ, Bowman S, Gottenberg JE, Criswell LA, Lessard CJ, Sivils KL, Carapito R, Bahram S, Seror R, Ng WF, Mariette X

Ann Rheum Dis. 2015 Sep 2. pii: annrheumdis-2015-207731

Polymorphisms in EGFR and IL28B are associated with spontaneous clearance in an HCV-infected iranian population.

Carapito R, Poustchi H, Kwemou M, Untrau M, Sharifi AH, Merat S, Haj-Sheykholeslami A, Jabbari H, Esmaili S, Michel S, Toussaint J, Le Gentil M, Ansari-Moghaddam A, Radosavljevic M, Etemadi A, Georgel P, Malekzadeh R, Bahram S

Genes Immun. 2015 Sep 17

On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-IL12RB2 regions with Behcet's disease in an Iranian population.

Carapito R, Shahram F, Michel S, Le Gentil M, Radosavljevic M, Meguro A, Abdollahi BS, Inoko H, Ota M, Davatchi F, Bahram S

Immunogenetics. 2015 Jun;67(5-6):289-93

Clinical laboratory medicine: continuous amelioration with a book of objectives and satisfaction survey.

Reix N, Agin A, Bahram S, Dali-Youcef N, Grucker D, Jaulhac B, Lepiller Q, Lessinger JM, Mauvieux L, Monier L, Schramm F, Stoll-Keller F, Vallat L, Ludes B, Candolfi E, Filisetti D

Ann Biol Clin (Paris). 2015 Apr 14.

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S

Mov Disord. 2015 Mar;30(3):423-7

Zinc-alpha2-Glycoprotein Exerts Antifibrotic Effects in Kidney and Heart.

Sorensen-Zender I, Bhayana S, Susnik N, Rolli V, Batkai S, Arpita B, Bahram S, Sen P, Teng B, Lindner R, Schiffer M, Thum T, Melk A, Haller H, Schmitt R

J Am Soc Nephrol. 2015 Mar 18. pii: ASN.2014050485.

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.

Meyer A, Lannes B, Carapito R, Bahram S, Echaniz-Laguna A, Geny B, Sibilia J, Gottenberg JE

Neuromuscul Disord. 2015 Feb;25(2):149-52

B cell activating factor is central to bleomycin- and IL-17-mediated experimental pulmonary fibrosis.

Francois A, Gombault A, Villeret B, Alsaleh G, Fanny M, Gasse P, Adam SM, Crestani B, Sibilia J, Schneider P, Bahram S, Quesniaux V, Ryffel B, Wachsmann D, Gottenberg JE, Couillin I

J Autoimmun. 2015 Jan;56:1-11

Circulating Human Eosinophils Share a Similar Transcriptional Profile in Asthma and Other Hypereosinophilic Disorders.

Barnig C, Alsaleh G, Jung N, Dembele D, Paul N, Poirot A, Uring-Lambert B, Georgel P, de Blay F, Bahram S

PLoS One. 2015 Nov 2;10(11):e0141740

Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.

Carapito R, Isidor B, Guerouaz N, Untrau M, Radosavljevic M, Launay E, Cassagnau E, Frenard C, Aubert H, Romefort B, Le Caignec C, Ott L, Paul N, Barbarot S, Bahram S

Br J Dermatol. 2015 Jan;172(1):302-5

Increased Viral Dissemination in the Brain and Lethality in MCMV-Infected, Dicer-Deficient Neonates.

Ostermann E, Macquin C, Krezel W, Bahram S, Georgel P

Viruses. 2015 May 6;7(5):2308-20

Toward standardization of BK virus monitoring: evaluation of the BK virus R-gene kit for quantification of BK viral load in urine, whole-blood, and plasma specimens.

Sueur C, Solis M, Meddeb M, Soulier E, Domingo-Calap P, Lepiller Q, Freitag R, Bahram S, Caillard S, Barth H, Stoll-Keller F, Fafi-Kremer S

J Clin Microbiol. 2014 Dec;52(12):4298-304

High diversity of MIC genes in non-human primates.

Meyer A, Carapito R, Ott L, Radosavljevic M, Georgel P, Adams EJ, Parham P, Bontrop RE, Blancher A, Bahram S

Immunogenetics. 2014 Oct;66(9-10):581-7

Differentiation of follicular helper T cells by salivary gland epithelial cells in primary Sjogren's syndrome.

Gong YZ, Nititham J, Taylor K, Miceli-Richard C, Sordet C, Wachsmann D, Bahram S, Georgel P, Criswell LA, Sibilia J, Mariette X, Alsaleh G, Gottenberg JE

J Autoimmun. 2014 Jun;51:57-66

Cascade: a R package to study, predict and simulate the diffusion of a signal through a temporal gene network.

Jung N, Bertrand F, Bahram S, Vallat L, Maumy-Bertrand M

Bioinformatics. 2014 Feb 15;30(4):571-3

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Carapito R, Paul N, Untrau M, Ott L, Corradini N, Poignant S, Geffroy L, Caldagues E, Heymann MF, Cassagnau E, Isidor B, Bahram S

J Hum Genet. 2014 Jan;59(1):57-9

MiR-30a-3p negatively regulates BAFF synthesis in systemic sclerosis and rheumatoid arthritis fibroblasts.

Alsaleh G, Francois A, Philippe L, Gong YZ, Bahram S, Cetin S, Pfeffer S, Gottenberg JE, Wachsmann D, Georgel P, Sibilia J

PLoS One. 2014 Oct 31;9(10):e111266

MiR-20a regulates ASK1 expression and TLR4-dependent cytokine release in rheumatoid fibroblast-like synoviocytes.

Philippe L, Alsaleh G, Pichot A, Ostermann E, Zuber G, Frisch B, Sibilia J, Pfeffer S, Bahram S, Wachsmann D, Georgel P

Ann Rheum Dis. 2013 Jun;72(6):1071-9

B lymphocytes and B-cell activating factor promote collagen and profibrotic markers expression by dermal fibroblasts in systemic sclerosis.

Francois A, Chatelus E, Wachsmann D, Sibilia J, Bahram S, Alsaleh G, Gottenberg JE

Arthritis Res Ther. 2013 Oct 28;15(5):R168

Reverse-engineering the genetic circuitry of a cancer cell with predicted intervention in chronic lymphocytic leukemia.

Vallat L, Kemper CA, Jung N, Maumy-Bertrand M, Bertrand F, Meyer N, Pocheville A, Fisher JW 3rd, Gribben JG, Bahram S

Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):459-64

The miR-17 approximately 92 Cluster: A Key Player in the Control of Inflammation during Rheumatoid Arthritis.

Philippe L, Alsaleh G, Bahram S, Pfeffer S, Georgel P

Front Immunol. 2013;4:70

Use of in vivo imaging to monitor the progression of experimental mouse cytomegalovirus infection in neonates.

Ostermann E, Macquin C, Bahram S, Georgel P

J Vis Exp. 2013 Jul 6;(77):e50409

Deregulation of type I IFN-dependent genes correlates with increased susceptibility to cytomegalovirus acute infection of dicer mutant mice.

Ostermann E, Tuddenham L, Macquin C, Alsaleh G, Schreiber-Becker J, Tanguy M, Bahram S, Pfeffer S, Georgel P

PLoS One. 2012;7(8):e43744

Waldenstrom's macroglobulinemia harbors a unique proteome where Ku70 is severely underexpressed as compared with other B-lymphoproliferative disorders.

Perrot A, Pionneau C, Azar N, Baillou C, Lemoine FM, Leblond V, Merle-Beral H, Bene MC, Herbrecht R, Bahram S, Vallat L

Blood Cancer J. 2012 Sep 7;2:e88

A unique proteomic profile on surface IgM ligation in unmutated chronic lymphocytic leukemia.

Perrot A, Pionneau C, Nadaud S, Davi F, Leblond V, Jacob F, Merle-Beral H, Herbrecht R, Bene MC, Gribben JG, Bahram S, Vallat L

Blood. 2011 Jul 28;118(4):e1-15

The non-conventional MHC class I MR1 molecule controls infection by Klebsiella pneumoniae in mice.

Georgel P, Radosavljevic M, Macquin C, Bahram S

Mol Immunol. 2011 Feb;48(5):769-75

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci.

Mizuki N, Meguro A, Ota M, Ohno S, Shiota T, Kawagoe T, Ito N, Kera J, Okada E, Yatsu K, Song YW, Lee EB, Kitaichi N, Namba K, Horie Y, Takeno M, Sugita S, Mochizuki M, Bahram S, Ishigatsubo Y, Inoko H

Nat Genet. 2010 Aug;42(8):703-6

Genome-wide Association Study of Normal Tension Glaucoma: Common Variants in SRBD1 and ELOVL5 Contribute to Disease Susceptibility

Meguro A, Inoko H, Ota M, Mizuki N, Bahram S, Shiota T, Itoh N, Nomura N, Murakami K, Sato M, Okada E, Iijima H, Kashiwagi K, Mabuchi F, Yamamoto T, Kawase K, Negi A, Nakamura M, Nishida T, Sagara T, Tanihara H, Inatani M, Araie M, Aihara M, Abe H, Fukuchi T, Sugiyama K, Higashide T, Kiuchi Y, Kanamoto T, Iwase A, Ohno S, Inoko H

Ophthalmology. 2010 Jul;117(7):1331-8.e5

Virus-host interactions in hepatitis C virus infection: implications for molecular pathogenesis and antiviral strategies.

Georgel P, Schuster C, Zeisel MB, Stoll-Keller F, Berg T, Bahram S, Baumert TF

Trends Mol Med. 2010 Jun;16(6):277-86

Genetics of Behcet disease inside and outside the MHC.

Meguro A, Inoko H, Ota M, Katsuyama Y, Oka A, Okada E, Yamakawa R, Yuasa T, Fujioka T, Ohno S, Bahram S, Mizuki N

Ann Rheum Dis. 2010 Apr;69(4):747-54

A novel heterophilic antibody interaction involves IgG4.

Ito T, Kitahara K, Umemura T, Ota M, Shimozuru Y, Kawa S, Bahram S

Scand J Immunol. 2010 Feb;71(2):109-14.

The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.

Georgel P, Macquin C, Bahram S

PLoS One. 2009 Nov 17;4(11):e7803.

TLR4/CD14-mediated PI3K activation is an essential component of interferon-dependent VSV resistance in macrophages.

Schabbauer G, Luyendyk J, Crozat K, Jiang Z, Mackman N, Bahram S, Georgel P

Mol Immunol. 2008 May;45(10):2790-6

A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway. 1990.

Spies T, Bresnahan M, Bahram S, Arnold D, Blanck G, Mellins E, Pious D, DeMars R

J Immunol. 2008 Mar 1;180(5):2737-40.

A Novel Immunoglobulin-Immunoglobulin Interaction in Autoimmunity

Kawa S, Kitahara K, Hamano H, Ozaki Y, Arakura N, Yoshizawa K, Umemura T, Ota M, Mizoguchi S, Shimozuru Y, Bahram S

PLoS One. 2008 Feb 20;3(2):e1637.

Bronchial challenge test in asthmatics sensitized to mites: role of particle size in bronchial response.

Casset A, Purohit A, Birba E, Chenard MP, Uring Lambert B, Bahram S, Meyer P, Pauli G, De Blay F

J Aerosol Med. 2007 Winter;20(4):509-18.

In Vivo Expression Pattern of MICA and MICB and Its Relevance to Auto-Immunity and Cancer

Schrambach S, Ardizzone M, Leymarie V, Sibilia J, Bahram S

PLoS One. 2007 Jun 13;2(6):e518.

Vesicular stomatitis virus glycoprotein G activates a specific antiviral Toll-like receptor 4-dependent pathway.

Georgel P, Jiang Z, Kunz S, Janssen E, Mols J, Hoebe K, Bahram S, Oldstone MB, Beutler B

Virology. 2007 Jun 5;362(2):304-13

Lipolysis is altered in MHC class I zinc-alpha(2)-glycoprotein deficient mice

Rolli V, Radosavljevic M, Astier V, Macquin C, Castan-Laurell I, Visentin V, Guigne C, Carpene C, Valet P, Gilfillan S, Bahram S

FEBS Lett. 2007 Feb 6;581(3):394-400

Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis.

Ota M, Katsuyama Y, Hamano H, Umemura T, Kimura A, Yoshizawa K, Kiyosawa K, Fukushima H, Bahram S, Inoko H, Kawa S

Immunogenetics. 2007 Jan;59(1):45-52

[Toll-dependent and toll-independent innate antiviral immunity].

Georgel P, Bahram S

Med Sci (Paris). 2006 Nov;22(11):961-8.

Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.

Shiina T, Ota M, Shimizu S, Katsuyama Y, Hashimoto N, Takasu M, Anzai T, Kulski JK, Kikkawa E, Naruse T, Kimura N, Yanagiya K, Watanabe A, Hosomichi K, Kohara S, Iwamoto C, Umehara Y, Meyer A, Wanner V, Sano K, Macquin C, Ikeo K, Tokunaga K, Gojobori T, Inoko H, Bahram S

Genetics. 2006 Jul;173(3):1555-70

Differential expression of genes related to HFE and iron status in mouse duodenal epithelium.

Abgueguen E, Toutain B, Bedrine H, Chicault C, Orhant M, Aubry M, Monnier A, Mottier S, Jouan H, Bahram S, Mosser J, Fergelot P

Mamm Genome. 2006 May;17(5):430-50.

The bronchial response to inhaled formaldehyde.

Casset A, Purohit A, Marchand C, Le Calve S, Donnay C, Uring-Lambert B, Bahram S, Pauli G, de Blay F

Rev Mal Respir. 2006 Feb;23 Suppl. 1:S25-34.

[The bronchial response to inhaled formaldehyde].

Casset A, Purohit A, Marchand C, Le Calve S, Donnay C, Uring-Lambert B, Bahram S, Pauli G, de Blay F

Rev Mal Respir. 2006 Feb;23(1 Suppl):3S25-34.

MIC and other NKG2D ligands: from none to too many.

Bahram S, Inoko H, Shiina T, Radosavljevic M

Curr Opin Immunol. 2005 Oct;17(5):505-9.

Regulatory networks for the control of body iron homeostasis and their dysregulation in HFE mediated hemochromatosis.

Ludwiczek S, Theurl I, Bahram S, Schumann K, Weiss G

J Cell Physiol. 2005 Aug;204(2):489-99.

Whole genome association study of rheumatoid arthritis using 27 039 microsatellites.

Tamiya G, Shinya M, Imanishi T, Ikuta T, Makino S, Okamoto K, Furugaki K, Matsumoto T, Mano S, Ando S, Nozaki Y, Yukawa W, Nakashige R, Yamaguchi D, Ishibashi H, Yonekura M, Nakami Y, Takayama S, Endo T, Saruwatari T, Yagura M, Yoshikawa Y, Fujimoto K, Oka A, Chiku S, Linsen SE, Giphart MJ, Kulski JK, Fukazawa T, Hashimoto H, Kimura M, Hoshina Y, Suzuki Y, Hotta T, Mochida J, Minezaki T, Komai K, Shiozawa S, Taniguchi A, Yamanaka H, Kamatani N, Gojobori T, Bahram S, Inoko H

Hum Mol Genet. 2005 Aug 15;14(16):2305-21

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