Detalhe da pesquisa
1.
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
Clin Genet
; 105(3): 317-322, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37975235
2.
RNF213-associated urticarial lesions with hypercytokinemia.
J Allergy Clin Immunol
; 150(6): 1545-1555, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35780935
3.
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Am J Hum Genet
; 105(6): 1148-1167, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31735292
4.
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Rheumatology (Oxford)
; 62(1): 473-479, 2022 12 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35640127
5.
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.
Liver Int
; 41(8): 1894-1900, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33966343
6.
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
J Allergy Clin Immunol
; 145(4): 1254-1261, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31816408
7.
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.
Hum Mol Genet
; 27(7): 1196-1211, 2018 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29365104
8.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet
; 99(2): 489-500, 2016 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27486783
9.
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.
Mol Reprod Dev
; 85(8-9): 682-695, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30118583
10.
RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
J Biol Chem
; 288(43): 31177-91, 2013 Oct 25.
Artigo
Inglês
| MEDLINE | ID: mdl-24019521
11.
Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
iScience
; 26(8): 107354, 2023 Aug 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37520705
12.
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
Elife
; 122023 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37342083
13.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Arthritis Rheumatol
; 75(3): 468-474, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36122175
14.
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.
J Invest Dermatol
; 140(4): 791-798.e2, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31513803
15.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nat Commun
; 9(1): 686, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29449551
16.
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.
Int J Biochem Cell Biol
; 52: 58-67, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24530837