Výsledky vyhledávání - "Sumito Dateki"

Akademický článek

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.

Autor: Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki

Publikováno v: PLoS ONE, Vol 8, Iss 9, p e74544 (2013)

BACKGROUND: The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phe

Externí odkaz: https://doaj.org/article/df48e85b90484940ac751d1a7a24c7cd

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[A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS]

Autor: Junki Harada, Toshiharu Kihara, Ken Kawada, Suzuna Gono, Ryo Sagawa, Tsubasa Kondo, Tsutomu Yuno, Yohei Shida, Tomoaki Hakariya, Taiichiro Kosaka, Sumito Dateki, Yasuyoshi Miyata, Hideki Sakai

Publikováno v: Nihon Hinyokika Gakkai zasshi. The japanese journal of urology. 112(3)

A 5-month-old boy was referred to our department to examine poor development of external genitalia. The patient was diagnosed with micropenis and bilateral impalpable testes, and testosterone replacement therapy was recommended. The testes remained i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ccddf535225a3ae2b488688d30ddd9
https://pubmed.ncbi.nlm.nih.gov/35858812

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MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT

Publikováno v: Nephrology Dialysis Transplantation. 37

BACKGROUND AND AIMS Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5388ded6420a1739b6b3d393b4cb2cea
https://doi.org/10.1093/ndt/gfac062.028

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Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

Autor: Haruka Kawamura, Hiroyuki Moriuchi, Izumi Asahina, Satoshi Watanabe, Takashi I, Sumito Dateki

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 33:963-966

Background Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c8a40c27d056990e5580c9297f32fe2
https://doi.org/10.1515/jpem-2019-0581

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A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5

Autor: Yujiro Nakano, Kumiko Shiba, Koh-ichiro Yoshiura, Kenji Ikeda, Kazutaka Tsujimoto, Yoshihiro Ogawa, Hitomi Shimizu, Hiroyuki Mishima, Chikara Komiya, Sumito Dateki, Tetsuya Yamada, Kenichi Kashimada

Publikováno v: Endocrine Journal. 67:1099-1105

Sitosterolemia is caused by homozygous or compound heterozygous gene mutations in either ATP-binding cassette subfamily G member 5 (ABCG5) or 8 (ABCG8). Since ABCG5 and ABCG8 play pivotal roles in the excretion of neutral sterols into feces and bile,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7504343ab01e15885cba7ed78c296dab
https://doi.org/10.1507/endocrj.ej20-0044

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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Autor: Hitomi Shimizu, Akira Kinoshita, Satoshi Watanabe, Hiroyuki Moriuchi, Sumito Dateki, Gen Nishimura, Koh-ichiro Yoshiura, Hiroyuki Mishima

Publikováno v: Journal of Human Genetics. 64:467-471

Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a586671300ac3baca6872132ab4bbc
http://hdl.handle.net/10069/38894

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