高谷里依子

研究者氏名	高谷里依子
	タカタニリエコ
所属	千葉大学
部署	教育学部
職名
学位	医学博士

研究キーワード

内分泌 ,小児科

研究分野

ライフサイエンス / 胎児医学、小児成育学 /

論文

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Psoitis and multiple venous thromboses caused by Panton Valentine Leukocidin-positive methicillin-sensitive Staphylococcus aureus in a 12-year-old girl: A case report.

Hitoshi Ogata Koo Nagasawa Noriko Takeuchi Sho Hagiwara Daisuke Sawada Tomotaka Umimura Yuki Konno Fumiya Yamaide Rieko Takatani Tomozumi Takatani Taiji Nakano Haruka Hishiki Naruhiko Ishiwada Naoki Shimojo

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 25(8) 630-634 2019年8月

Panton Valentine Leukocidin (PVL) is one of the many toxins produced by Staphylococcus aureus. In Japan, PVL-positive S. aureus strains are mainly methicillin-resistant S. aureus (MRSA). Data regarding PVL-positive methicillin-sensitive S. aureus ...

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Cindy Colson Matthieu Decamp Nicolas Gruchy Nadia Coudray Céline Ballandonne Claire Bracquemart Arnaud Molin Hervé Mittre Rieko Takatani Harald Jüppner Marie-Laure Kottler Nicolas Richard

Bone 123 145-152 2019年6月

Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically (spor-PHP1B). These latter patients present broad methylat...

A novel CUL7 mutation in a Japanese patient with 3M syndrome.

Tomozumi Takatani Tadashi Shiohama Rieko Takatani Naoki Shimojo

Human genome variation 5 30-30 2018年

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mu...

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Giedre Grigelioniene Pasi I Nevalainen Monica Reyes Susanne Thiele Olta Tafaj Angelo Molinaro Rieko Takatani Marja Ala-Houhala Daniel Nilsson Jesper Eisfeldt Anna Lindstrand Marie-Laure Kottler Outi Mäkitie Harald Jüppner

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 32(4) 776-783 2017年4月

Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is assoc...

Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.

Sabrina Poradosu Bert Bravenboer Rieko Takatani Harald Jüppner

BMJ case reports 2016 2016年5月

Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. ...