Results 61 to 70 of about 10,028,553 (168)

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, Volume 20, Issue 2, Page 282-306, February 2026.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

, 2010
Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1). To date, approximately 130 different mutations on the CLCN1 gene have been identified.
Yuan, Zhe Feng, Li, Hai Feng, Shui, Quan Xiang, Jiang, Ke Wen, Gao, Feng, Yang, Cui Wei, Xia, Zhe Zhi, Ma, Fu Chan   +7 more
core   +3 more sources

Genomic analyses of claw disorders in Holstein cows: Genetic parameters, trait associations, and genome-wide associations considering interactions of SNP and heat stress

Journal of Dairy Science, 2022
: The aim of the present study was an in-depth genomic analysis to understand the genomic mechanisms of the 3 claw disorders dermatitis digitalis (DD), interdigital hyperplasia (HYP), and sole ulcer (SU).
Niklas Sölzer, Katharina May, Tong Yin, Sven König   +3 more
doaj   +1 more source

Table3_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.DOCX

, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Abdul Hanif Khan Yusof Khan (9462833), Wei Chao Loh (9462839), Anna Misyail Abdul Rashid (10987998), Nurul Huda Musa (14317911), Marina L. Kennerson (3149982), Nur Afiqah Mohamad (10987995), Wan Aliaa Wan Sulaiman (9462851), Karuppiah Thilakavathy (14317914), Azliza Ibrahim (9930845), Janudin Baharin (9462845), Liyana Najwa Inche Mat (9462848), Hamidon Basri (6122072), Fan Kee Hoo (9462860)   +12 more
core   +1 more source

Video_1_Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.MP4

, 2021
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Shuizhen Zhou (6695027), Yiyun Shi (9117480), Chaoping Hu (9352052), Xihua Li (148840), Lei Zhao (144153)   +4 more
core   +1 more source

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +1 more source

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +1 more source

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA‐binding factors such as the Muscleblind‐like (MBNL)
Caroline Hermitte, Hortense de Calbiac, Gilles Moulay, Antoine Mérien, Jeanne Lainé, Hélène Polvèche, Michel Cailleret, Stéphane Vassilopoulos, Edor Kabashi, Denis Furling, Cécile Martinat, Morgan Gazzola   +11 more
wiley   +1 more source

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG, Jin-fu LIN, Cheng ZHANG, Xin-jing ZHONG, Xue-ling CHEN, Jing LI, Yu-ling ZHU   +6 more
doaj  

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.

Revista de Biología Tropical, 2006
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, P. Cuenca, G. del. Valle, Melissa Vásquez, R. Brian, M. Sittenfeld, K. Johnson, Lin Xi, T. Ashizawa   +8 more
semanticscholar   +1 more source