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Nutrition: Calcium
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Total 268 results found since Jan 2013.
A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease
Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis an...
Source: Pediatric Rheumatology - June 30, 2021 Category: Rheumatology Authors: Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park and Yeong Wook Song Tags: Case Report Source Type: research
Skeletal myopathy in CKD: a comparison of adenine-induced nephropathy and 5/6 nephrectomy models in mice
The objective of the present study was to compare the adenine diet and 5/6 nephrectomy (5/6 Nx) models in mice. Male and female 10-week-old C57BL/6J mice (N=5-9/sex/group) were randomly allocated to CKD groups (0.2-0.15% adenine-supplemented diet or 5/6 Nx surgery) or corresponding control groups (casein diet or sham surgery). Glomerular filtration rate was reduced to a similar level in adenine and 5/6 Nx mice (adenine male: 81.1 ± 41.9 µL/min vs. 5/6 Nx male: 160 ± 80.9 µL/min, P=0.5875; adenine female: 112.9 ± 32.4 µL/min vs. 5/6 Nx female: 107.0 ± 45.7 µL/min, P=0.9995). Serum metabolomics analysis indicated tha...
Source: Am J Physiol Renal P... - June 14, 2021 Category: Urology & Nephrology Authors: Kyoungrae Kim Erik M Anderson Trace Thome Guanyi Lu Zachary R Salyers Tomas A Cort Kerri A O'Malley Salvatore T Scali Terence E Ryan Source Type: research
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
ConclusionsOur finding along with previous studies provides more evidence on the clinical presentation of the disease caused by pathogenic mutations inMICU1. Finding more variants and expanding the spectrum of the disease increases the diagnostic rate of molecular testing in screening of this kind of diseases and in turn improves the quality of counseling for at risk couples and helps them to minimize the risks of having affected children.
Source: Molecular and Cellular Pediatrics - May 9, 2021 Category: Cytology Source Type: research
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Troponin C (TnC) is a critical regulator of skeletal muscle contraction; it binds Ca2+ to activate muscle contraction. Surprisingly, the gene encoding fast skeletal TnC (TNNC2) has not yet been implicated in muscle disease. Here, we report 2 families with pathogenic variants in TNNC2. Patients present with a distinct, dominantly inherited congenital muscle disease. Molecular dynamics simulations suggested that the pathomechanisms by which the variants cause muscle disease include disruption of the binding sites for Ca2+ and for troponin I. In line with these findings, physiological studies in myofibers isolated from patien...
Source: Journal of Clinical Investigation - May 3, 2021 Category: Biomedical Science Authors: Martijn van de Locht, Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon Begthel, Benno Kusters, Payam Mohassel, Ying Hu, Livija Medne, Colin Quinn, Steven A. Moore, A. Reghan Foley, Gwimoon Seo, Darren T. Hwee, Fady I. Malik, Thomas Irving, Wei Source Type: research
