Papers - Kosaki Kenjiro

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

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

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

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

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

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

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

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

• Access to Document (DOI)

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

• Access to Document (DOI)

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

• Access to Document (DOI)

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

• Access to Document (DOI)

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

• Access to Document (DOI)

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

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

Siblings with optic neuropathy and RTN4IP1 mutation.

KOSAKI KENJIROOkamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.

J Hum Genet  2017

Research paper (scientific journal), Joint Work

• Access to Document (DOI)

Expansion of the phenotype of Kosaki overgrowth syndrome.

KOSAKI KENJIROMinatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uenara T, Kurosawa K, Kosaki K, Curry CJ.

Am J Med Genet A 173 ( 9 ) 2422 - 2427 2017

Research paper (scientific journal), Joint Work, Accepted

• Access to Document (DOI)

Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.

KOSAKI KENJIROKizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.

Horm Res Paediatr. 88 ( 5 ) 316 - 323 2017

Research paper (scientific journal), Joint Work, Accepted

• Access to Document (DOI)

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype:Consideration of the historical aspect.

KOSAKI KENJIROSakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K.

Am J Med Genet A. 173 ( 10 ) 2831 - 2833 2017

Research paper (scientific journal), Joint Work, Accepted

• Access to Document (DOI)

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

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

• Access to Document (DOI)