文献
J-GLOBAL ID:201702230538843763
整理番号:17A0385642
3′エキソヌクレアーゼTOE1の両対立遺伝子性変異は,橋小脳低形成を引き起こし,TOE1のsnRNAプロセシングにおける役割を明らかにする
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
著者 (65件):
LARDELLI Rea M
(Univ. California San Diego, California, USA)
,
SCHAFFER Ashleigh E
(Univ. California San Diego, California, USA)
,
SHAW Tim L
(Univ. California San Diego, California, USA)
,
BENNETT Eric J
(Univ. California San Diego, California, USA)
,
LYKKE-ANDERSEN Jens
(Univ. California San Diego, California, USA)
,
GLEESON Joseph G
(Univ. California San Diego, California, USA)
,
SCHAFFER Ashleigh E
(Rockefeller Univ., New York, USA)
,
SCHLACHETZKI Zinayida
(Rockefeller Univ., New York, USA)
,
ROSTI Basak
(Rockefeller Univ., New York, USA)
,
AKIZU Naiara
(Rockefeller Univ., New York, USA)
,
SCOTT Eric
(Rockefeller Univ., New York, USA)
,
SILHAVY Jennifer L
(Rockefeller Univ., New York, USA)
,
HECKMAN Laura Dean
(Rockefeller Univ., New York, USA)
,
ROSTI Rasim Ozgur
(Rockefeller Univ., New York, USA)
,
DIKOGLU Esra
(Rockefeller Univ., New York, USA)
,
GREGOR Anne
(Rockefeller Univ., New York, USA)
,
GUEMEZ-GAMBOA Alicia
(Rockefeller Univ., New York, USA)
,
MUSAEV Damir
(Rockefeller Univ., New York, USA)
,
MANDE Rohit
(Rockefeller Univ., New York, USA)
,
WIDJAJA Ari
(Rockefeller Univ., New York, USA)
,
MARIN-VALENCIA Isaac
(Rockefeller Univ., New York, USA)
,
GLEESON Joseph G
(Rockefeller Univ., New York, USA)
,
SATHE Shashank
(Univ. California San Diego, California, USA)
,
VAN NOSTRAND Eric L
(Univ. California San Diego, California, USA)
,
MARKMILLER Sebastian
(Univ. California San Diego, California, USA)
,
YEO Gene W
(Univ. California San Diego, California, USA)
,
EGGENS Veerle R C
(Academic Medical Center, Amsterdam, NLD)
,
BAAS Frank
(Academic Medical Center, Amsterdam, NLD)
,
ZAKI Maha S
(National Res. Centre, Cairo, EGY)
,
GRAINGER Stephanie
(Univ. California San Diego, California, USA)
,
TRAVER David
(Univ. California San Diego, California, USA)
,
DAVIES Justin H
(Univ. Hospital Southampton NHS Foundation Trust, Southampton, GBR)
,
DE MEIRLEIR Linda
(Universitair Ziekenhuis Brussels, Brussels, BEL)
,
KAYSERILI Hulya
(Koc Univ. School of Medicine, Istanbul, TUR)
,
ALTUNOGLU Umut
(Istanbul Univ., Istanbul, TUR)
,
FRECKMANN Mary Louise
(Canberra Hospital, Australian Capital Territory, AUS)
,
WARWICK Linda
(Canberra Hospital, Australian Capital Territory, AUS)
,
CHITAYAT David
(Hospital for Sick Children, Ontario, CAN)
,
CHITAYAT David
(Univ. Toronto, Ontario, CAN)
,
BLASER Susan
(Hospital for Sick Children, Ontario, CAN)
,
CAGLAYAN Ahmet Okay
(Istanbul Bilim Univ., Istanbul, TUR)
,
CAGLAYAN Ahmet Okay
(Yale Univ. School of Medicine, Connecticut, USA)
,
GUNEL Murat
(Yale Univ. School of Medicine, Connecticut, USA)
,
BILGUVAR Kaya
(Yale Univ. School of Medicine, Connecticut, USA)
,
PER Huseyin
(Erciyes Univ. School of Medicine, Kayseri, TUR)
,
FAGERBERG Christina
(Odense Univ. Hospital, Odense, DNK)
,
CHRISTESEN Henrik T
(Odense Univ. Hospital, Odense, DNK)
,
KIBAEK Maria
(Odense Univ. Hospital, Odense, DNK)
,
ALDINGER Kimberly A
(Seattle Children’s Res. Inst., Washington, USA)
,
DOBYNS William B
(Seattle Children’s Res. Inst., Washington, USA)
,
MANCHESTER David
(Univ. Colorado School of Medicine, Colorado, USA)
,
MATSUMOTO Naomichi
(Yokohama City Univ., Yokohama, JPN)
,
SAITSU Hirotomo
(Yokohama City Univ., Yokohama, JPN)
,
MURAMATSU Kazuhiro
(Gunma Univ. School of Medicine, Maebashi City, JPN)
,
SAITSU Hirotomo
(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)
,
SHIINA Masaaki
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
OGATA Kazuhiro
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
FOULDS Nicola
(Southampton Univ. Hospitals Trust, Southampton, GBR)
,
CHI Neil C
(Univ. California San Diego, California, USA)
,
SPACCINI Luigina
(Istituti Clinici di Perfezionamento, Milan, ITA)
,
BOVA Stefania Maria
(Istituti Clinici di Perfezionamento, Milan, ITA)
,
GABRIEL Stacey B
(Broad Inst., Harvard and MIT, Massachusetts, USA)
,
VALENTE Enza Maria
(Univ. Salerno, Salerno, ITA)
,
NASSOGNE Marie-Cecile
(Univ. Catholique de Louvain, Brussels, BEL)
,
YEO Gene W
(National Univ. Singapore, Singapore)
資料名:
Nature Genetics
(Nature Genetics)
巻:
49
号:
3
ページ:
457-464
発行年:
2017年03月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)