CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zarate; Tomoko Uehara; Kota Abe; Masayuki Oginuma; Sora Harako; Shizuka Ishitani; Anna-Elina Lehesjoki; Tatjana Bierhals; Katja Kloth; Nadja Ehmke; Denise Horn; Manuel Holtgrewe; Katherine Anderson; David Viskochil; Courtney L. Edgar-Zarate; Maria J. Guillen Sacoto; Rhonda E. Schnur; Michelle M. Morrow; Amarilis Sanchez-Valle; John Pappas; Rachel Rabin; Mikko Muona; Anna-Kaisa Anttonen; Konrad Platzer; Johannes Luppe; Janina Gburek-Augustat; Tadashi Kaname; Nobuhiko Okamoto; Seiji Mizuno; Yusaku Kaido; Yoshiaki Ohkuma; Yutaka Hirose; Tohru Ishitani; Kenjiro Kosaki

doi:10.1038/s41436-020-01091-9

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna-Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Katherine Anderson, David Viskochil, Courtney L. Edgar-Zarate, Maria J. Guillen Sacoto, Rhonda E. Schnur, Michelle M. Morrow, Amarilis Sanchez-Valle, John PappasRachel Rabin, Mikko Muona, Anna-Kaisa Anttonen, Konrad Platzer, Johannes Luppe, Janina Gburek-Augustat, Tadashi Kaname, Nobuhiko Okamoto, Seiji Mizuno, Yusaku Kaido, Yoshiaki Ohkuma, Yutaka Hirose, Tohru Ishitani, Kenjiro Kosaki

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Genetics In medicine
Vuosikerta	23
Numero	6
Sivut	1050-1057
Sivumäärä	8
ISSN	1098-3600
DOI - pysyväislinkit	https://doi.org/10.1038/s41436-020-01091-9
Tila	Julkaistu - kesäk. 2021
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet

Pääsy asiakirjaan

10.1038/s41436-020-01091-9

Zarate et al, CDK19-related disorder results from both loss-of-function and gain-of-function de novoHyväksytty kirjoittajan käsikirjoitus, 7,76 MB

Siteeraa tätä

Zarate, Y. A., Uehara, T., Abe, K., Oginuma, M., Harako, S., Ishitani, S., Lehesjoki, A-E., Bierhals, T., Kloth, K., Ehmke, N., Horn, D., Holtgrewe, M., Anderson, K., Viskochil, D., Edgar-Zarate, C. L., Sacoto, M. J. G., Schnur, R. E., Morrow, M. M., Sanchez-Valle, A., ... Kosaki, K. (2021). CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genetics In medicine, 23(6), 1050-1057. https://doi.org/10.1038/s41436-020-01091-9

@article{242bf5f779ce46498e37fca9fcc07ea0,

title = "CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants",

keywords = "MEDIATOR COMPLEX, PROTEIN, SEQUENCE, GENES, MED12, CDK8, 3111 Biomedicine",

author = "Zarate, {Yuri A.} and Tomoko Uehara and Kota Abe and Masayuki Oginuma and Sora Harako and Shizuka Ishitani and Anna-Elina Lehesjoki and Tatjana Bierhals and Katja Kloth and Nadja Ehmke and Denise Horn and Manuel Holtgrewe and Katherine Anderson and David Viskochil and Edgar-Zarate, {Courtney L.} and Sacoto, {Maria J. Guillen} and Schnur, {Rhonda E.} and Morrow, {Michelle M.} and Amarilis Sanchez-Valle and John Pappas and Rachel Rabin and Mikko Muona and Anna-Kaisa Anttonen and Konrad Platzer and Johannes Luppe and Janina Gburek-Augustat and Tadashi Kaname and Nobuhiko Okamoto and Seiji Mizuno and Yusaku Kaido and Yoshiaki Ohkuma and Yutaka Hirose and Tohru Ishitani and Kenjiro Kosaki",

year = "2021",

month = jun,

doi = "10.1038/s41436-020-01091-9",

language = "English",

volume = "23",

pages = "1050--1057",

journal = "Genetics In medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "6",

}

Zarate, YA, Uehara, T, Abe, K, Oginuma, M, Harako, S, Ishitani, S, Lehesjoki, A-E, Bierhals, T, Kloth, K, Ehmke, N, Horn, D, Holtgrewe, M, Anderson, K, Viskochil, D, Edgar-Zarate, CL, Sacoto, MJG, Schnur, RE, Morrow, MM, Sanchez-Valle, A, Pappas, J, Rabin, R, Muona, M, Anttonen, A-K, Platzer, K, Luppe, J, Gburek-Augustat, J, Kaname, T, Okamoto, N, Mizuno, S, Kaido, Y, Ohkuma, Y, Hirose, Y, Ishitani, T & Kosaki, K 2021, 'CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants', Genetics In medicine, Vuosikerta 23, Nro 6, Sivut 1050-1057. https://doi.org/10.1038/s41436-020-01091-9

TY - JOUR

T1 - CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

AU - Zarate, Yuri A.

AU - Uehara, Tomoko

AU - Abe, Kota

AU - Oginuma, Masayuki

AU - Harako, Sora

AU - Ishitani, Shizuka

AU - Lehesjoki, Anna-Elina

AU - Bierhals, Tatjana

AU - Kloth, Katja

AU - Ehmke, Nadja

AU - Horn, Denise

AU - Holtgrewe, Manuel

AU - Anderson, Katherine

AU - Viskochil, David

AU - Edgar-Zarate, Courtney L.

AU - Sacoto, Maria J. Guillen

AU - Schnur, Rhonda E.

AU - Morrow, Michelle M.

AU - Sanchez-Valle, Amarilis

AU - Pappas, John

AU - Rabin, Rachel

AU - Muona, Mikko

AU - Anttonen, Anna-Kaisa

AU - Platzer, Konrad

AU - Luppe, Johannes

AU - Gburek-Augustat, Janina

AU - Kaname, Tadashi

AU - Okamoto, Nobuhiko

AU - Mizuno, Seiji

AU - Kaido, Yusaku

AU - Ohkuma, Yoshiaki

AU - Hirose, Yutaka

AU - Ishitani, Tohru

AU - Kosaki, Kenjiro

PY - 2021/6

Y1 - 2021/6

KW - MEDIATOR COMPLEX

KW - PROTEIN

KW - SEQUENCE

KW - GENES

KW - MED12

KW - CDK8

KW - 3111 Biomedicine

U2 - 10.1038/s41436-020-01091-9

DO - 10.1038/s41436-020-01091-9

M3 - Article

VL - 23

SP - 1050

EP - 1057

JO - Genetics In medicine

JF - Genetics In medicine

SN - 1098-3600

IS - 6

ER -