Identification of a novel missense mutation in Friedreich's ataxia –FXNW 168R
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.728
Abstract: Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation.… read more here.
Keywords: novel missense; friedreich ataxia; missense mutation; identification novel ... See more keywords
Identification of a novel 10 immune‐related genes signature as a prognostic biomarker panel for gastric cancer
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DOI: 10.1002/cam4.4180
Abstract: Emerging evidence indicates that immune infiltrating cells in tumor microenvironment (TME) correlates with the development and progression of gastric cancer (GC). This study aimed to systematically investigate the immune‐related genes (IRGs) to develop a prognostic… read more here.
Keywords: novel immune; gastric cancer; immune related; identification novel ... See more keywords
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24338
Abstract: The synthesis of cytochrome c oxidase 2 (SCO2) gene encodes for a mitochondrial located metallochaperone essential for the synthesis of the cytochrome c oxidase (COX) subunit 2. Recessive mutations in SCO2 have been reported in… read more here.
Keywords: cytochrome oxidase; synthesis cytochrome; identification novel;
Target identification of a novel unsymmetrical 1,3,4‐oxadiazole derivative with antiproliferative properties
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30120
Abstract: 1,3,4‐Oxadiazole derivatives are widely used in research on antineoplastic drugs. Recently, we discovered a novel unsymmetrical 1,3,4‐oxadiazole compound with antiproliferative properties called 2j. To further investigate its possible targets and molecular mechanisms, RNA‐seq was performed… read more here.
Keywords: unsymmetrical oxadiazole; target identification; novel unsymmetrical; antiproliferative properties ... See more keywords
Identification of a novel probiotic and its protective effects on NAFLD via modulating gut microbial community.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the science of food and agriculture"
DOI: 10.1002/jsfa.11820
Abstract: BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is becoming the most common progressive liver diseases. Therapeutic strategy based on gut-liver axis and probiotics is a promising approach for the treatment of NAFLD. However, rare probiotics have… read more here.
Keywords: liver; protective effects; effects nafld; novel probiotic ... See more keywords
Purification and Identification of a Novel Hypotensive and Antioxidant Peptide from Porcine Plasma.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the science of food and agriculture"
DOI: 10.1002/jsfa.11860
Abstract: BACKGROUND Pig plasma contains a lot of protein. Porcine plasma polypeptide can be prepared by enzymatic hydrolysis of porcine plasma protein. The present study tried to study the function, structure and mechanism of porcine plasma… read more here.
Keywords: purification identification; peptide; plasma; porcine plasma ... See more keywords
Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1022
Abstract: Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)‐secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. read more here.
Keywords: novel somatic; whole genome; somatic mutation; mutation pou6f2 ... See more keywords
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1295
Abstract: Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on… read more here.
Keywords: mlh1; genetic screening; identification novel; novel pathogenic ... See more keywords
Identification of a novel microdeletion causative of Nance‐Horan syndrome
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DOI: 10.1002/mgg3.1879
Abstract: Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver… read more here.
Keywords: nance horan; horan syndrome; identification novel; novel microdeletion ... See more keywords
Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
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DOI: 10.1002/mgg3.1903
Abstract: Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary… read more here.
Keywords: ank1 mutation; mutation hereditary; spherocytosis; novel ank1 ... See more keywords
Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1909
Abstract: Previous studies of individuals with hereditary or sporadic congenital heart disease (CHD) have provided strong evidence for a genetic basis for CHD. The aim of this study was to identify novel pathogenic genes and variants… read more here.
Keywords: identification novel; heart disease; family; congenital heart ... See more keywords