RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

Sandeep N. Wontakal; Mishan Britto; Huan Zhang; Yongshuai Han; Chengjie Gao; Sarah Tannenbaum; Benjamin H. Durham; Margaret T. Lee; Xiuli An; Masanori Mishima

doi:10.1182/blood.2021012334

RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

Sandeep N. Wontakal, Mishan Britto, Huan Zhang, Yongshuai Han, Chengjie Gao, Sarah Tannenbaum, Benjamin H. Durham, Margaret T. Lee, Xiuli An, Masanori Mishima

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	1413-1418
Number of pages	6
Journal	Blood
Volume	139
Issue number	9
DOIs	https://doi.org/10.1182/blood.2021012334
State	Published - Mar 3 2022
Externally published	Yes

ASJC Scopus subject areas

Hematology
Biochemistry
Cell Biology
Immunology

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10.1182/blood.2021012334

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title = "RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease",

author = "Wontakal, {Sandeep N.} and Mishan Britto and Huan Zhang and Yongshuai Han and Chengjie Gao and Sarah Tannenbaum and Durham, {Benjamin H.} and Lee, {Margaret T.} and Xiuli An and Masanori Mishima",

note = "Funding Information: This work was supported by grant 1K08NS119567 from the NINDS, National Institutes of Health (NIH) (S.N.W.), program grant C19769/A11985 from Cancer Research UK (M.M.), and grants HL140625 and HL149626 from the NHLBI, NIH (X.A.). Funding Information: The authors thank Sergey Lekomtsev and Mark Petronczki for plasmids and Vimla Aggarwal, Julie Canman, Kartik Ganapathi, Kazutaka Murayama, Mikako Shirouzu, Steve Spitalnik, and Jenny Yang for helpful discussions and/or critical comments on the manuscript. The authors gratefully acknowledge CAMDU (Computing and Advanced Microscopy Unit) at Warwick Medical School for its support and assistance with live imaging. The Columbia University Irving Medical Center institutional review board (IRB) deemed this study exempt from IRB approval because it was considered a case study.The authors apologize to those authors whom we could not cite because of reference limitations. This work was supported by grant 1K08NS119567 from the NINDS, National Institutes of Health (NIH) (S.N.W.), program grant C19769/A11985 from Cancer Research UK (M.M.), and grants HL140625 and HL149626 from the NHLBI, NIH (X.A.).",

year = "2022",

month = mar,

day = "3",

doi = "10.1182/blood.2021012334",

language = "English (US)",

volume = "139",

pages = "1413--1418",

journal = "Blood",

issn = "0006-4971",

publisher = "American Society of Hematology",

number = "9",

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TY - JOUR

T1 - RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

AU - Wontakal, Sandeep N.

AU - Britto, Mishan

AU - Zhang, Huan

AU - Han, Yongshuai

AU - Gao, Chengjie

AU - Tannenbaum, Sarah

AU - Durham, Benjamin H.

AU - Lee, Margaret T.

AU - An, Xiuli

AU - Mishima, Masanori

N1 - Funding Information: This work was supported by grant 1K08NS119567 from the NINDS, National Institutes of Health (NIH) (S.N.W.), program grant C19769/A11985 from Cancer Research UK (M.M.), and grants HL140625 and HL149626 from the NHLBI, NIH (X.A.). Funding Information: The authors thank Sergey Lekomtsev and Mark Petronczki for plasmids and Vimla Aggarwal, Julie Canman, Kartik Ganapathi, Kazutaka Murayama, Mikako Shirouzu, Steve Spitalnik, and Jenny Yang for helpful discussions and/or critical comments on the manuscript. The authors gratefully acknowledge CAMDU (Computing and Advanced Microscopy Unit) at Warwick Medical School for its support and assistance with live imaging. The Columbia University Irving Medical Center institutional review board (IRB) deemed this study exempt from IRB approval because it was considered a case study.The authors apologize to those authors whom we could not cite because of reference limitations. This work was supported by grant 1K08NS119567 from the NINDS, National Institutes of Health (NIH) (S.N.W.), program grant C19769/A11985 from Cancer Research UK (M.M.), and grants HL140625 and HL149626 from the NHLBI, NIH (X.A.).

PY - 2022/3/3

Y1 - 2022/3/3

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U2 - 10.1182/blood.2021012334

DO - 10.1182/blood.2021012334

M3 - Letter

C2 - 34818416

AN - SCOPUS:85125484860

SN - 0006-4971

VL - 139

SP - 1413

EP - 1418

JO - Blood

JF - Blood

IS - 9

ER -

RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

ASJC Scopus subject areas

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