Papers - Kosaki Kenjiro

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

KOSAKI KENJIRO Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Osaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H.

Stem Cell Reports 2 ( (5) ) 648 - 661 2014

Research paper (scientific journal)

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

KOSAKI KENJIRO Takenouchi T, Tsukahara Y, Horikawa R, Kosaki K, Kosaki R.

Am J Med Genet A 164 ( (10) ) 2679 - 2681 2014

Research paper (scientific journal), Joint Work

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study.

KOSAKI KENJIRO Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K.

Genet Test Mol Biomarkers 18 ( (11) ) 722 - 735 2014

Research paper (scientific journal), Joint Work

KIF1A mutation in a patient with progressive neurodegeneration.

KOSAKI KENJIRO Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.

J Hum Genet 59 ( (11) ) 639 - 641 2014

Research paper (scientific journal), Joint Work

Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1.

KOSAKI KENJIRONomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T.

J Child Neurol 28 ( (7) ) 949 - 951 2013.08

Research paper (scientific journal), Joint Work, Accepted

Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure

KOSAKI KENJIROTakenouchi T, Saito H, Maruoka R, Oishi N, Torii C, Maeda J, Takahashi T

Am J Med Genet A 161A ( 7 ) 1733 - 1736 2013.07

Research paper (scientific journal), Joint Work

遺伝性疾患におけるターゲットリシーケンシングの有用性 (第1土曜特集 エクソーム解析 : 成果と将来)　

KOSAKI KENJIRO

医学のあゆみ 245 ( (5) ) 369 - 371 2013

Research paper (scientific journal), Single Work

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.

KOSAKI KENJIROTakenouchi T, Nishina S, Kosaki R, Torii C, Furukawa R, Takahashi T, Kosaki K.

Eur J Med Genet 56 ( 1 ) 50-53 2013

Research paper (scientific journal), Joint Work, Accepted

Experience of Risk-reducing Salpingo-oophorectomy for a BRCA1 Mutation Carrier and Establishment of a System Performing a Preventive Surgery for Hereditary Breast and Ovarian Cancer Syndrome in Japan: Our Challenges for the Future.

KOSAKI KENJIROHirasawa A, Masuda K, Akahane T, Tsuruta T, Banno K, Makita K, Susumu N, Jinno H, Kitagawa Y, Sugano K, Kosaki K, Aoki D.

Jpn J Clin Oncol 43 ( 5 ) 515-519 2013

Research paper (scientific journal), Joint Work, Accepted

Large Congenital Melanocytic Nevi With Atypical Teratoid/Rhabdoid Tumor.

KOSAKI KENJIROYamazaki F, Osumi T, Kosaki K, Mikami S, Hirato J, Shimada H.

Pediatr Blood Cancer 60 ( (7) ) 1240 - 1241 2013

Research paper (scientific journal), Joint Work, Accepted

Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1.

KOSAKI KENJIROUeda K, Awazu M, Konishi Y, Takenouchi T, Shimozato S, Kosaki K, Takahashi　T

Am J Med Genet A 161 ( 5 ) 1154-1157 2013

Research paper (scientific journal), Joint Work, Accepted

Potential Teratogenicity of Methimazole: Exposure of Zebrafish Embryos to Methimazole Causes Similar Developmental Anomalies to Human Methimazole Embryopathy.

KOSAKI KENJIROKomoike Y, Matsuoka M, Kosaki K.

Birth Defects Res B Dev Reprod Toxicol 98 ( (3) ) 222 - 229 2013

Research paper (scientific journal), Joint Work, Accepted

Daytime somnolence in an adult with Smith-Magenis syndrome

KOSAKI KENJIRO134.Takenouchi T, Saito T,Oishi N,Fukushima H,Kosaki R, Torii C, Takahashi T,Kosaki K.

American Journal of Medical Genetics 161A ( (7) ) 1803 - 1805 2013

Research paper (scientific journal), Joint Work

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.

KOSAKI KENJIRO136.Hirasawa A, Zama T, Akahane T, Nomura H, Kataoka F, Saito K, Okubo K, Tominaga E, Makita K, Susumu N, Kosaki K, Tanigawara Y, Aoki D.

J Hum Gene 58 ( (12) ) 794 - 798 2013

Research paper (scientific journal), Joint Work

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

KOSAKI KENJIROTakenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K

Am J Med Genet A 161 ( (12) ) 3057 - 3062 2013

Research paper (scientific journal), Joint Work

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

KOSAKI KENJIROMutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.

Orphanet J Rare Dis. 8 ( (1) ) 172 2013

Research paper (scientific journal), Joint Work

Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

KOSAKI KENJIROKubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M.

Am J Hum Genet. 93 ( (5) ) 945 - 956 2013

Research paper (scientific journal), Joint Work

Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.

KOSAKI KENJIRO,Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K

Am J Med Genet A 158 ( A(4) ) 812-5 2012

Research paper (scientific journal), Joint Work, Accepted

EEC syndrome-like phenotype in a patient with an IRF6 mutation.

KOSAKI KENJIRO,Kosaki R, Kaneko T, Torii C, Kosaki K.

Am J Med Genet A 158 ( A(5) ) 1219-20 2012

Research paper (scientific journal), Joint Work, Accepted

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

KOSAKI KENJIRONishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K.

Am J Med Genet A 158 ( 3 ) 514-518 2012

Research paper (scientific journal), Joint Work, Accepted