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1. 幼児期および小児期早期の一過性高リン血症 transient hyperphosphatasemia of infancy and early childhood
2. 骨パジェット病の臨床症状および診断 clinical manifestations and diagnosis of paget disease of bone
3. 骨形成不全症：臨床的特徴および診断 osteogenesis imperfecta clinical features and diagnosis
4. 皮膚石灰沈着症：病院および患者の評価 calcinosis cutis etiology and patient evaluation
5. 患者情報：骨パジェット病（変形性骨炎）（詳細） paget disease of bone osteitis deformans beyond the basics

English Journal

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Zhu N1, Heinrich V1, Dickhaus T2, Hecht J3, Robinson PN1, Mundlos S4, Kamphans T5, Krawitz PM4.
Bioinformatics (Oxford, England).Bioinformatics.2015 Nov 15;31(22):3577-83. doi: 10.1093/bioinformatics/btv457. Epub 2015 Aug 6.
MOTIVATION: When analyzing a case group of patients with ultra-rare disorders the ethnicities are often diverse and the data quality might vary. The population substructure in the case group as well as the heterogeneous data quality can cause substantial inflation of test statistics and result in sp
PMID 26249812

[Inherited GPI deficiency; a new disease with intellectual disability and epilepsy].

Murakami Y, Kinoshita T.
Nihon rinsho. Japanese journal of clinical medicine.Nihon Rinsho.2015 Jul;73(7):1227-37.
Recently, many cases of inherited GPI deficiency(IGD) are found among individuals with intellectual disability and intractable seizures. To date, about twenty patients have been reported in Japan and up to a hundred in the world. GPI is the glycolipid which anchors 150 kinds of proteins to the plasm
PMID 26165085

Fujiwara I1, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23.
Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures. Recent studies have revealed mutations in PIGV, PIGW, PIG
PMID 25706356

村上良子,木下タロウ
脳と発達 47(1), 5-13, 2015
最近, 先天性GPI欠損症が知能障害や乳幼児発症の難治性てんかんの原因疾患として注目を集めている. GPI (glycosyl-phosphatidyl-inositol) は150種以上のタンパク質を細胞膜につなぎとめるアンカーの役割をする糖脂質でその基本骨格は真核生物で保存されている. GPIアンカー型タンパク質の生合成とそのリモデリングに関与する遺伝子は現在までに少なくとも26個あることが …
NAID 130005005752