Results 281 to 290 of about 1,412,344 (374)

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family. [PDF]

Front Genet
Huang C, Huang Z, Wang P, Wu X, Zhou Q, Ding J, Luo Q, Wu W, Fan X, Fan L.   +9 more
europepmc   +1 more source

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing. [PDF]

NPJ Genom Med, 2022
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M.   +11 more
europepmc   +1 more source

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

, 1995
Jens Michael Hertz, Niina Heiskari, Jing Zhou, Uffe Birk Jensen, Karl Tryggvason   +4 more
openalex   +1 more source

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene [PDF]

, 2001
D Feldmann, F. Laroze, C. Troadec, A. Clément, G Tournier, R. Couderc   +5 more
openalex   +1 more source

Comprehensive αβ T‐Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8‐Deficient Patients

Allergy, EarlyView.
T cell receptor repertoire analysis by high‐throughput immune repertoire RNA‐sequencing in the patients with DOCK8 deficiency. Comprehensive comparisons revealed a restricted TCR repertoire diversity in the patients. Additional assessments showed potential auto‐reactive CD8+ T cell clones in the patients.Abbreviations: DOCK8, dedicator of cytokinesis ...
Ceren Bozkurt, Gökhan Cildir, Umran Aba, Rahmi Kutay Erdogan, Nicholas I Warnock I, Chung Hoow Kok, Asena Pinar Sefer, Sule Haskologlu, Sidem Didar Tekeoglu, Gülşah Merve Kılınç, Canberk Ipsir, Tugba Arikoglu, Aylin Kont Ozhan, Saliha Esenboga, Ahmet Özen, Elif Karakoç‐Aydiner, Sevgi Bilgiç Eltan, Çigdem Aydogmus, Candan Islamoglu, Kübra Baskın, Betul Karaatmaca, Ayse Metin, Deniz Çagdaş, Figen Dogu, Aydan Ikinciogullari, Safa Baris, Baran Erman   +26 more
wiley   +1 more source

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report. [PDF]

Heliyon
Makhmetov S, Temirkhanova K, Rakhimova S, Satvaldina N, Kalendar R, Kozhamkulov U, Bolatov A, Bayanova M, Bazenova A, Nazarova L, Akilzhanova A, Kairov U.   +11 more
europepmc   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area. [PDF]

Clin Cosmet Investig Dermatol
Huang S, Alhadidi MAA, Feng N, Wan C.
europepmc   +1 more source

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer [PDF]

, 2002
Massimo Caputi, Raymond J. Kendzior, Karen Beemon   +2 more
openalex   +1 more source

A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa. [PDF]

J Med Life
Ayub M, Xiong X, Anwer S, Altmüller J, Naeem M, Hassan N, Khan K, Motameny S, Khaliq S, Rehman FU, Uddin SA, Wali A, Betz R, Basit S.   +13 more
europepmc   +1 more source