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Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

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Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ventricles. In line with its expression pattern, MYH7

A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.

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Changes of cytoskeletal architecture and incorporation of 3H-proline in contracted anterior cruciate ligament.

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Changes of cytoskeletal architecture and incorporation of 3H-proline were investigated in contracted anterior cruciate ligaments with use of a model of contracture. In control ligaments, fibroblasts were shown by immunofluorescence microscopy to contain actin, vimentin, and myosin in their

[The cellular and molecular mechanism of inhibitory effect of asiaticoside on capsular contracture following breast augmentation].

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OBJECTIVE To explore the cellular and molecular mechanism of the inhibitory effect of asiaticoside on capsular contracture following breast augmentation. METHODS Contracture capsule derived fibroblasts were cultured in medium with different concentration of asiaticoside. The cell proliferation,

Metabolism and proliferation of cultured fibroblasts from specimens of human palmar fascia and Dupuytren's contracture. The pathobiochemistry of connective tissue proliferation, II.

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Cell Cultures from 11 Dupuytren's contracture and 6 normal palmar fascia specimens were established. The rates of sulphated glycosaminoglycan, collagen and DNA synthesis by means of incorporation of labelled precursors ([35S]sulphate, [3H]proline, [3]thymidine) as well as the growth characteristics

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

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Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects. The emerin gene has been

5-fluorouracil selectively inhibits collagen synthesis.

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BACKGROUND Fibroproliferative disorders, such as Dupuytren's contracture of the hand, are characterized by excessive production of collagen. 5-Fluorouracil has been used to treat fibroproliferative disorders of the eye and skin and is thought to inhibit thymidylate synthetase blocking DNA

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

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The TWNK (C10orf2) gene encodes Twinkle, an essential helicase for mtDNA replication. Homozygous mutations in TWNK can lead to mitochondrial DNA depletion syndrome 7 (MTDPS7) that usually manifests as Infantile onset spinocerebellar ataxia (IOSCA). Here, we report a 15-year-old Iranian boy with

Pathology of the ageing--diverticular disease.

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The correlation of increased incidence of diverticular disease with age is well documented. Such a correlation results from the development of a structural change in the taeniae coli, a progressive elastosis. The consequences of this elastosis are a shortening of the taeniae coli and a subsequent

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

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Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM:

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

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Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Here we describe 33 patients with PYCR1-related ARCL from 27

Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.

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The conserved multifunctional protein Gle1 regulates gene expression at multiple steps: nuclear mRNA export, translation initiation, and translation termination. A GLE1 mutation (FinMajor) is causally linked to human lethal congenital contracture syndrome-1 (LCCS1); however, the resulting

Novel synthesis of Falcaria vulgaris leaf extract conjugated copper nanoparticles with potent cytotoxicity, antioxidant, antifungal, antibacterial, and cutaneous wound healing activities under in vitro and in vivo condition.

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Facile green synthesis of copper nanoparticles from different biological procedures has been indicated, but among all, biosynthesis of copper nanoparticles from medicinal plants is considered as the most suitable method. The use of medicinal plant material increases the therapeutical effects of

Novel green synthesis and antioxidant, cytotoxicity, antimicrobial, antidiabetic, anticholinergics, and wound healing properties of cobalt nanoparticles containing Ziziphora clinopodioides Lam leaves extract

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The aim of the experiment was a green synthesis of cobalt nanoparticles from the aqueous extract of Ziziphora clinopodioides Lam (CoNPs) and assessment of their cytotoxicity, antioxidant, antifungal, antibacterial, and cutaneous wound healing properties. The synthesized CoNPs were characterized

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