Results 231 to 240 of about 1,506,824 (383)

High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families [PDF]

, 1998
Toyomasa Katagiri, Fujio Kasumi, Masataka Yoshimoto, Tadashi Nomizu, Kazuaki Asaishi, Rikiya Abe, Atsuo Tsuchiya, Masahiko Sugano, Shin‐ichiro Takai, Mitsusato Yoneda, Takashi Fukutomi, Kiyoshi Nanba, Masujiro Makita, Hiroshi Okazaki, Kouichi Hirata, M. Okazaki, Yoshikazu Furutsuma, Yasuo Morishita, Y Iino, Takayuki Karino, Hiroyoshi Ayabe, Shinsuke Hara, Tetsuro Kajiwara, Syunsuke Houga, Tadao Shimizu, Masakazu Toda, Y Yamazaki, Takashi Uchida, Kazufumi Kunitomo, Hiroshi Sonoo, Junichi Kurebayashi, Koujiro Shimotsuma, Yusuke Nakamura, Yoshio Miki   +33 more
openalex   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

NSAIDS AS MODULATORS OF CATION CHANNELS: FENAMATES REPURPOSING IN CHANNELOPATHIES

ChemMedChem, Accepted Article.
Cationic ion channels are transmembrane proteins that regulate the flux of cations (potassium, sodium, and calcium) across cell membrane, playing a pivotal role in many cellular functions. Disruptions of their activity can lead to the so‐called genetic or acquired channelopathies, a heterogeneous group of diseases that affect multiple human systems ...
Paola Laghetti, Concetta Altamura, Simone Dell’Atti, Jean-François Desaphy, Ilaria Saltarella   +4 more
wiley   +1 more source

Saccharomyces cerevisiae pms2 Mutations Are Alleles of MLH1, and pms2-2 Corresponds to a Hereditary Nonpolyposis Colorectal Carcinoma-Causing Missense Mutation [PDF]

, 1996
Ayyamperumal Jeyaprakash, Ruchira Das Gupta, Richard D. Kolodner   +2 more
openalex   +1 more source

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1‐Associated Entity, a Case Report and Literature Review

Diagnostic Cytopathology, EarlyView.
ABSTRACT Introduction Thyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and DICER1 mutations. Fewer than 15 well‐characterized cases have been reported, with limited cytological descriptions.
R. Razack, A. C. van Wyk, P. T. Schubert, D. Pelletier, W. D. Foulkes, C. Njovu, W. Conradie, F. Hoosain   +7 more
wiley   +1 more source

Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Sci Rep
Gong X, Lei X, Li Z, Xing Y.
europepmc   +1 more source

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

, 1996
Barbara Heß, Sabine Kafert, Uwe Heinisch, David A. Wenger, Joël Zlotogora, Volkmar Gieselmann   +5 more
openalex   +1 more source

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia [PDF]

, 1998
Hideaki Sawai, Akinori Ida, Yuko Nakata, Kazuo Koyama   +3 more
openalex   +1 more source

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy

ESC Heart Failure, EarlyView.
Abstract Aims Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy often caused by pathogenic variants in MYBPC3 and MYH7, encoding myosin‐binding protein C3 and myosin heavy chain 7, respectively. These variants can cause increased actin–myosin crossbridge cycling, resulting in ventricular hypercontractility, but mice lacking Mybpc3 ...
Isabell Yan, Zoe Möhring, Daniel Reichart, Fanny Kortüm, Julia Münch, Rixa Woitschach, Paulus Kirchhof, Lucie Carrier, Carolyn Y. Ho, Thomas Eschenhagen, Monica Patten   +10 more
wiley   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source