Results 161 to 170 of about 1,506,824 (383)

Restoring expression of wild-type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation.

Journal of Clinical Investigation, 2011
The transcription factor p53 is a tumor suppressor. As such, the P53 gene is frequently altered in human cancers. However, over 80% of the P53 mutations found in human cancers are missense mutations that lead to expression of mutant proteins that not ...
Yongxing Wang, Young-Ah Suh, Maren Y. Fuller, J. Jackson, S. Xiong, Tamara Terzian, A. Quintás-Cardama, J. Bankson, A. El-Naggar, G. Lozano   +9 more
semanticscholar   +1 more source

Mainstream Artificial Intelligence Technologies in Contemporary Ophthalmology

Advanced Intelligent Systems, EarlyView.
This review explores the latest artificial intelligence (AI) technologies in ophthalmology, focusing on four key data types: medical imaging, electronic health records, robotic‐assisted surgery, and genomics. It examines the structural features, use cases, clinical goals, and evaluation metrics of various AI algorithms, while also introducing emerging ...
Shiqi Yin, Lei Wang, Shanjun Wu, Jiewei Jiang, Wei Qiang, Yangyang Wang, Shihong Wang, Yi Shao, Wei Chen, Zhongwen Li   +9 more
wiley   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC, Beck-Peccoz, P, Borretta, G, Jameson, JL, Mantovani, G, Ozisik, G, Persani, L, Romoli, R, Spada, A   +8 more
core  

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]

, 1989
Vivian Chan, TK Chan, TM Tong, D. Todd
openalex   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. [PDF]

, 1992
Paula S. Henthorn, M Raducha, K N Fedde, M A Lafferty, Michael P. Whyte   +4 more
openalex   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. [PDF]

, 1993
Kazuo Takahashi, Xian‐Cheng Jiang, Naohiko Sakai, Shizuya Yamashita, Ken‐ichi Hirano, Hideaki Bujo, Hiroyuki Yamazaki, Jun Kusunoki, Tomohiro Miura, Paul Kussie   +9 more
openalex   +1 more source

LHCGR Missense Mutation

Definitions, 2020

semanticscholar   +1 more source