Results 201 to 210 of about 616,961 (234)

Clinical Genetics of Musculoskeletal Disorders

Journal of Orthopaedic Translation, 2016
doaj   +1 more source

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source

Antibiofilm activity of a chionodracine‐derived peptide by NMR‐based metabolomics of cell‐free supernatant of Acinetobacter baumannii clinical strains

FEBS Open Bio, EarlyView.
KHS‐Cnd peptide is able to impair biofilm formation and disaggregate mature biofilms in Acinetobacter baumannii clinical isolates. Differences in extracellular metabolites reflect changes in biofilm metabolism due to KHS‐Cnd treatment. Among the differentially represented extracellular metabolites upon KHS‐Cnd treatment, the significantly altered ...
Fernando Porcelli, Enrico Landi, Francesco Maiurano, Irene Paris, Rosanna Papa, Marco Artini, Laura Selan, Stefano Borocci, Francesco Buonocore, Esther Imperlini   +9 more
wiley   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

FEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan, Jingling Huang, Xiang Lin, Tingjiao Lan, Yuli Tang, Ling Sun, Guixuan Zhou   +6 more
wiley   +1 more source

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

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Clinical mitochondrial genetics

Journal of Medical Genetics, 1999
The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich’s ataxia,1 2 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the ...
P F, Chinnery, N, Howell, R M, Andrews, D M, Turnbull   +3 more
openaire   +2 more sources

Clinical Genetics

Pediatrics, 1954
Application of genetic theory to clinical situations must always remain, in a sense, unfinished business. In the nature of the circumstances it is impossible, and presumably will always remain impossible, to prove that a given trait is transmitted from man to man by the intervention of genes. The closest one can come to proof is to demonstrate that the
  +4 more sources

Clinical Genetics

Acta geneticae medicae et gemellologiae, 1961
The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
openaire   +2 more sources

Genetic imprinting in clinical genetics

Development, 1990
ABSTRACT Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes.
openaire   +2 more sources