Results 51 to 60 of about 2,557 (149)

Table1_Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.XLSX

, 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

Chloride Channels in Amyotrophic Lateral Sclerosis

Acta Medica Bulgarica
In amyotrophic lateral sclerosis (ALS), human postmortem transcriptomics reveals a consistent shift, with downregulation of neuronal genes and upregulation of glial and inflammatory programs. This establishes a framework where inhibitory synapses and ion
Tourtourikov I., Mitev V., Todorova A.
doaj   +1 more source

SNPs analyses of CLCN1 in cats with and without myotonia congenita.

, 2014
SNPs analyses of CLCN1 in cats with and without myotonia congenita.
Rob J. Daniel (652006), Melanie D. Youngs (652007), Stacey B. Leach (652008), Ling T. Guo (84296), Boyd R. Jones (106691), Leslie A. Lyons (106603), Dennis P. O'Brien (241639), Barbara Gandolfi (106586), G. Diane Shelton (84300)   +8 more
core   +1 more source

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +1 more source

Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence

Advanced Science, Volume 13, Issue 17, 23 March 2026.
Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu, Ke Zhang, Zelei Miao, Gaoyi Yang, Yujing Huang, Ju‐Sheng Zheng   +5 more
wiley   +1 more source

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. [PDF]

, 2021
Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease.
Morales Montero, Fernando, Brenes García, Oscar Gerardo, Roig Fernández Jeffry, Romero Vásquez, Adarli, Barbieri, Raffaella, Vásquez Cerdas, Melissa, Vindas Smith, Rebeca, del Valle Carazo, Gerardo, Bertelli, Sara, Pusch, Michael, Bermúdez Guzmán, Luis   +10 more
core  

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

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

, 2012
To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC)
Haworth, A, Lunt, P, Hanna, MG, Toscano, A, Matthews, E, Burge, J, Schorge, S, Raja Rayan, DL, Portaro, S, McEntagart, M, Davis, MB, Sud, R, Fialho, D, Tuin, K   +13 more
core   +1 more source

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Frontiers in Neurology, 2020
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano   +8 more
doaj   +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