Papers - Kosaki Kenjiro
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Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.
KOSAKI KENJIROEhara Y, Yamamoto O, Kosaki K, Yoshida Y.
J Dermatol. 44 ( 11 ) 1262 - 1267 2017
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A genome-wide association analysis identifies PDE1A|DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population.
KOSAKI KENJIROKimura M, Tamura Y, Guignabert C, Takei M, Kosaki K, Tanabe N, Tatsumi K, Saji T, Satoh T, Kataoka M, Kamitsuji S, Kamatani N, Thuillet R, Tu L, Humbert M, Fukuda K, Sano M.
Oncotarget. 8 ( 43 ) 74917 - 74926 2017
Research paper (scientific journal)
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Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
KOSAKI KENJIROHasegawa D, Ochiai-Shino H, Onodera S, Nakamura T, Saito A, Onda T, Watanabe K, Nishimura K, Ohtaka M, Nakanishi M, Kosaki K, Yamaguchi A, Shibahara T, Azuma T.
PLoS One. 12 ( 10 ) e0186879 2017
Research paper (scientific journal), Joint Work
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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
KOSAKI KENJIROHori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S
Sci Rep. 7 ( (1) ) 3552 2017
Research paper (scientific journal), Joint Work
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Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome.
KOSAKI KENJIROSakiyama T, Umegaki-Arao N, Sasaki T, Amagai M, Kubo A.
J Dermatol. 44 ( (1) ) 102 - 103 2017
Research paper (scientific journal), Joint Work
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Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
KOSAKI KENJIROHamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI.
J Neurochem 140 ( (1) ) 82 - 95 2017
Research paper (scientific journal), Joint Work
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An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes.
KOSAKI KENJIROKimura M, Fujisawa T, Aizawa Y, Matsuhashi N, Ito S, Nakajima K, Kashimura S, Kunitomi A, Katsumata Y, Nishiyama T, Kimura T, Nishiyama N, Yuasa S, Takatsuki S, Kosaki K, Fukuda K.
Int J Cardiol. 227 367 - 369 2017
Research paper (scientific journal), Joint Work
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Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
KOSAKI KENJIROKosaki R, Terashima H, Kubota M, Kosaki K.
Am J Med Genet A. 173 ( (1) ) 250 - 253 2017
Research paper (scientific journal), Joint Work
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Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome.
KOSAKI KENJIROOkuno H, Nakabayashi K, Abe K, Ando T, Sanosaka T, Kohyama J, Akamatsu W, Ohyama M, Takahashi T, Kosaki K, Okano H.
Congenit Anom (Kyoto). 57 ( (4) ) 96 - 103 2017
Research paper (scientific journal), Joint Work
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A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction
KOSAKI KENJIROKimura M, Kohno T, Aizawa Y, Inohara T, Shiraishi Y, Katsumata Y, Egashira T, Fukushima H, Kosaki K, Fukuda K.
Can J Cardiol. 33 ( (4) ) 554 2017
Research paper (scientific journal), Joint Work
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A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
KOSAKI KENJIRONegishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
BMC Med Genet. 18 ( (1) ) 4 2017
Research paper (scientific journal), Joint Work
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Diagnostic Use of Computational Retrotransposon Detection: Successful Definition of Pathogenetic Mechanism in Ciliopathy Phenotype
KOSAKI KENJIROTakenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K.
Am J Med Genet A 173 ( (5) ) 1353 - 1357 2017
Research paper (scientific journal), Joint Work
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Mitochondrial mutations in maternally inherited hearing loss.
KOSAKI KENJIROMutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T.
BMC Med Genet. 18 ( (1) ) 32 2017
Research paper (scientific journal), Joint Work
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Novel MCA/ID syndrome with ASH1L mutation.
KOSAKI KENJIROOkamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
Am J Med Genet A. 173 ( (6) ) 1644 - 1648 2017
Research paper (scientific journal), Joint Work
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Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
KOSAKI KENJIROTakenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K.
Am J Med Genet A. 173 ( (6) ) 1631 - 1634 2017
Research paper (scientific journal), Joint Work
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Initiating an undiagnosed diseases program in the Western Australian public health system.
KOSAKI KENJIROBaynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.
Orphanet J Rare Dis. 12 ( (1) ) 83 2017
Research paper (scientific journal), Joint Work
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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
KOSAKI KENJIROKato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.
J Hum Genet 2017
Research paper (scientific journal), Joint Work
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
KOSAKI KENJIROGabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.
Am J Hum Genet. 100 ( (6) ) 907 - 925 2017
Research paper (scientific journal), Joint Work
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Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
KOSAKI KENJIROTsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H.
Eur J Hum Genet. 24 ( (12) ) 1702 - 1706 2016
Research paper (scientific journal), Joint Work
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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
KOSAKI KENJIRO Takenouchi T, Okamoto N, Ida S, Uehara T,
Am J Med Genet A 170 ( (4) ) 852 - 855 2016
Research paper (scientific journal), Joint Work