Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Wenmu, Hu"'
Publikováno v:
mBio, Vol 15, Iss 2 (2024)
ABSTRACT Long-term/high-dose glucocorticoid (GC) use results in glycolipid metabolism disorder, which severely limits its clinical application. The role of the gut microbiota and its metabolites in GC-induced glycolipid metabolism disorder remains un
Externí odkaz:
https://doaj.org/article/28084cda474d4e3384273eaf2d775d28
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 40(1)
To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05dbe97b2f241143bd77316a5321d6ab
https://pubmed.ncbi.nlm.nih.gov/36585003
https://pubmed.ncbi.nlm.nih.gov/36585003
Publikováno v:
Human Heredity. 85:117-124
Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4cf51bc3cf74dd6a314f420978e0e8d4
https://doi.org/10.1159/000516854
https://doi.org/10.1159/000516854
Publikováno v:
Human heredity.
Introduction: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozygous mutations in the insulin receptor gene (INSR). The aim of this study was to explore the clinical and genetic characteristics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00645156f608e3ea335fcbb5adeba397
https://pubmed.ncbi.nlm.nih.gov/35661079
https://pubmed.ncbi.nlm.nih.gov/35661079
Publikováno v:
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 45(10)
Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a190920e845078b6323dea6d4a589ad8
https://pubmed.ncbi.nlm.nih.gov/33268590
https://pubmed.ncbi.nlm.nih.gov/33268590
Autor:
Qin Zhang, Youbo Yang, Zhaohui Mo, Li-hua Huang, Ping Jin, Jun Liu, Wenmu Hu, Wen-jun Yang, Xiaodan Long
Publikováno v:
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. 52(11)
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited endocrine tumor syndrome caused by inactivating variants of the MEN1 gene. The aim of this study is to explore the clinical and genetic characteristics of four MEN1 patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2acee9c6055a5388ff230450c914227
https://pubmed.ncbi.nlm.nih.gov/32299109
https://pubmed.ncbi.nlm.nih.gov/32299109