Results 41 to 50 of about 11,146 (222)
Structure of the CLC-1 chloride channel from Homo sapiens. [PDF]
, 2018 CLC channels mediate passive Cl- conduction, while CLC transporters mediate active Cl- transport coupled to H+ transport in the opposite direction. The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence.
MacKinnon, Roderick, Park, Eunyong
core +2 more sources
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
A personal historic perspective on the role of chloride in skeletal and cardiac muscle [PDF]
, 2017 During the early decades of the last century, skeletal muscle was held to be impermeable to chloride ions. This theory, based on shaky grounds, was famously falsified by Boyle and Conway in 1941.
Hutter, Otto F.
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Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Anesthetic management of a patient with sodium-channel myotonia: a case report
JA Clinical Reports, 2019 Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto +4 more
doaj +1 more source
Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core +1 more source
Continuous outcome estimation in N‐of‐1 trials for accelerated decision‐making
Epilepsia, EarlyView.Abstract Objective N‐of‐1 trials aim to determine the therapeutic effect for a single individual. This individualized approach necessitates collecting multiple data points over time through repeated alternating periods of active treatment and a comparator or control condition.
Victoria Defelippe +5 more
wiley +1 more source
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
Frontiers in GeneticsMyotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari +10 more
doaj +1 more source
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I [PDF]
, 2017 Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene.
Beat Erne +19 more
core +4 more sources
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source