Harigai Ritsuko, Sakai Shigeki, Nobusue Hiroyuki, Hirose Chikako, Sampetrean Oltea, Minami Noriaki, Hata Yukie, Kasama Takashi, Hirose Takanori, Takenouchi Toshiki, Kosaki Kenjiro, Kishi Kazuo, Saya Hideyuki, Arima Yoshimi
Scientific Reports 8(1) Dec 2018
<p>Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regul...
<p>Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms. Typically, patients with NPHP-RC reach end-stage kidney disease (ESKD) before the age ...
American Journal of Medical Genetics, Part A 176(3) 712-714 Mar 2018 [Refereed]
<p>Recently, in a cohort study with “overgrowth syndrome with intellectual disability,” five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern app...
American Journal of Medical Genetics, Part A Jan 2018 [Refereed]
<p>Somatic truncating variants of the WAC gene have been observed in patients with hematologic malignancies. Furthermore, de novo heterozygous constitutional pathogenic variants of WAC have recently been shown to cause a syndromic form of intellec...
European Journal of Medical Genetics Jan 2018 [Refereed]
<p>Loss-of-function mutations in coagulation cascade proteins lead to bleeding diasthesis. In contrast, gain-of-function mutations in these proteins, which are exceptionally rare, lead to hereditary thrombosis. This is best exemplified by Factor V...
