Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Shang-Zhi Huang"'
Autor:
Shi En Liu, De Guo Lu, Jian Jun Zhao, Mao You Zhuang, Xu Ma, Shang Zhi Huang, Feng Yuan Che, Ji Jun Teng, Qing Jun Zhang, Fei Feng Li, Shi Guo Liu
Publikováno v:
Journal of the Neurological Sciences. 266:109-114
Mutations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia (ADHSP). To date, little is known about the relationship between genotype–phenotype correlation. In order to examine the gene mutation associated with the genotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b8394f7f1215bdfbd34e2eb469de9aa
https://doi.org/10.1016/j.jns.2007.09.024
https://doi.org/10.1016/j.jns.2007.09.024
Autor:
Zhu-qing, Wang, Ping, Wang, Yah-huei, Wu-Chou, Xiao-qian, Ye, Shang-zhi, Huang, Bing, Shi, Ke, Wang, Yuan, Yuan, Dong-jing, Liu, Tao, Wu, Hong, Wang, Terri H, Beaty
Publikováno v:
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. 47(3)
To explore the association between 10 candidate genes on transforming growth factor-β (TGFB) signaling pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese populations, and to study the gene-environment interaction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc3c8ad02ade2d0358639b250d3656ec
https://pubmed.ncbi.nlm.nih.gov/26080863
https://pubmed.ncbi.nlm.nih.gov/26080863
Autor:
Zhi-Qin Wang, Xin Zhang, Na Li, Zhihong Cheng, Ke-Sheng Wang, Lu-Sheng Xu, Shang-Zhi Huang, Ze-Guang Han, Dong-Zhi Wei
Publikováno v:
FEBS Letters. 570:7-12
The known members of inhibitor of growth (ING) gene family are considered as candidate tumor suppressor genes. ING4, a novel member of ING family, is recently reported to interact with tumor suppressor p53, p300 (a major component of histone acetyl t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a6a339a08bd94ed736b2f483150966
https://doi.org/10.1016/j.febslet.2004.06.010
https://doi.org/10.1016/j.febslet.2004.06.010
Autor:
Yan, Meng, Wei-min, Zhang, Hui-ping, Shi, Feng-xia, Yao, Zheng-qing, Qiu, Tao, Yang, Shi-min, Zhao, Shang-zhi, Huang
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(11)
Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::098850b942f812a644d4b5d9ba774b80
https://pubmed.ncbi.nlm.nih.gov/24484558
https://pubmed.ncbi.nlm.nih.gov/24484558
Autor:
Ping, Wang, Hong, Wang, Yah-huei, Wu-chou, Xiao-qian, Ye, Shang-zhi, Huang, Bing, Shi, Kung-yee, Liang, Wei-hua, Cao, Tao, Wu, Terei H, Beaty
Publikováno v:
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. 45(3)
To explore the association between 18 candidate genes encoding enzymes on the folate/homocysteine metabolism pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese populations.A total of 806 NSCL/P trios were drawn by an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8548ed5734f9113f6ffb7a6f536053c
https://pubmed.ncbi.nlm.nih.gov/23774909
https://pubmed.ncbi.nlm.nih.gov/23774909
Publikováno v:
Chinese medical journal. 126(6)
Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).Five
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a50d584e538aea5a568736dc03e7cc5
https://pubmed.ncbi.nlm.nih.gov/23506586
https://pubmed.ncbi.nlm.nih.gov/23506586
Autor:
Liang, Ma, Dai-Rong, Feng, Ming-Hua, Zhong, Li-Wei, Wang, Ying, Cai, Yi-Gai, Ma, Shang-Zhi, Huang
Publikováno v:
Zhongguo shi yan xue ye xue za zhi. 19(5)
The aim of this study was to analyze the FMS-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD) allelic ratios (AR), number of ITD, ITD length and positions of ITD insertions in de novo acute myeloid leukemia (AML) patients with FLT3-ITD p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a5922bb678c06240243d9436d6f67fbb
https://pubmed.ncbi.nlm.nih.gov/22040963
https://pubmed.ncbi.nlm.nih.gov/22040963
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics. 49(4)
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50cf63cf00c16da1798308659d59ed62
https://pubmed.ncbi.nlm.nih.gov/21624209
https://pubmed.ncbi.nlm.nih.gov/21624209
Autor:
Liang, Ma, Ming-Hua, Zhong, Dai-Rong, Feng, Hong, Long, Jun, Shen, Yi-Gai, Ma, Shang-Zhi, Huang
Publikováno v:
Zhongguo shi yan xue ye xue za zhi. 18(6)
The aim of this study was to analyze the frequency of flt3 length mutation (flt3-LM) in de novo acute myeloid leukemia patients and the relationship between flt3-LM and chromosome alterations, FAB subgroups, as well as efficiency of therapy. Genomic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d2f5bf9dc094a8409e4c4b3367e9bad
https://pubmed.ncbi.nlm.nih.gov/21176335
https://pubmed.ncbi.nlm.nih.gov/21176335
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 27(5)
To investigate the mutations in protein tyrosine phosphatase, nonreceptor-type 11 (PTPN11) gene in patients with Noonan syndrome (NS).Three sporadic patients with NS were studied. Genomic DNAs were extracted from peripheral blood leukocytes. All 15 c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4704584519d25a3d0bb34d66099a0caa
https://pubmed.ncbi.nlm.nih.gov/20931536
https://pubmed.ncbi.nlm.nih.gov/20931536