Elma El Khouri

发表

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

S. Amselem, A. Aouba, B. Copin, 2023, eLife.

De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder

S. Amselem, P. Quartier, B. Copin, 2022, Arthritis & rheumatology.

NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations.

S. Amselem, I. Melki, B. Copin, 2019, The Journal of allergy and clinical immunology.

RNF185 Is a Novel E3 Ligase of Endoplasmic Reticulum-associated Degradation (ERAD) That Targets Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)*

E. El Khouri, A. Delaunay-Moisan, G. Le Pavec, 2013, The Journal of Biological Chemistry.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

N. Thierry-Mieg, B. Conne, P. Jouk, 2018, Nature Communications.

CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.

P. Ray, Caroline Cazin, A. Touré, 2023, Clinical Genetics.

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

P. Ray, S. Savinov, F. Guillonneau, 2019, American journal of human genetics.

RNF213-associated urticarial lesions with hypercytokinemia.

S. Amselem, O. Chosidow, P. de la Grange, 2022, The Journal of allergy and clinical immunology.

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

S. Amselem, P. Ray, S. Savinov, 2018, Human molecular genetics.

Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.

S. Amselem, B. Copin, E. El Khouri, 2020, The Journal of investigative dermatology.

Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance.

A. Touré, E. El Khouri, Elma El Khouri, 2014, The international journal of biochemistry & cell biology.

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse

F. Saez, A. Touré, E. El Khouri, 2018, Molecular reproduction and development.