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D

Diane C. Slusarski

University of Iowa

H指数:41

被引数:1.0万

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Functional Role of the RNA-Binding Protein Rbm24a and Its Target sox2 in Microphthalmia

IF3.9

2021-01-215

OAAI

Broken heart: disruption of the RNA binding protein rbm24a alters heart morphogenesis and leads to cardiomyopathy

IF4.2

2020-04-160

OA

The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development

HUMAN MOLECULAR GENETICS

IF3.2

2019-12-0936

OAAI

A High-Throughput Assay for Congenital and Age-Related Eye Diseases in Zebrafish

IF3.9

2019-04-1118

OAAI

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

IF3.7

2017-07-2830

OAAI

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

HUMAN MOLECULAR GENETICS

IF3.2

2016-03-22102

OAAI

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis

HUMAN MOLECULAR GENETICS

IF3.2

2015-10-2264

OA

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

IF3.7

2014-02-1344

OAAI

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis

DISEASE MODELS & MECHANISMS

IF3.3

2013-01-0127

OAAI

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2011-02-01140

OAAI

Tao, Hirotaka; Manak, J. Robert; Sowers, Levi; Mei, Xue; Kiyonari, Hiroshi; Abe, Takaya; Dandaleh, Nader S.; Yang, Tian; Wu, Shu; Chen, Shan; Fox, Mark H.; Gurnett, Christina; Montine, Thomas; Bird, Thomas; Shaffer, Lisa G.; Rosenfeld, Jill A.; McConne, Juliann; Madan-Khetarpal, Suneeta; Berry-Kravis, Elizabeth; Griesbach, Hilary; Saneto, Russell P.; Scott, Matthew P.; Antic, Dragana; Reed, Jordan; Boland, Riley; Ehaideb, Salleh N.; El-Shanti, Hatem; Mahajan, Vinit B.; Ferguson, Polly J.; Axelrod, Jeffrey D.; Lehesjoki, Anna-Elina; Fritzsch, Bernd; Slusarski, Diane C.; Wemmie, John; Ueno, Naoto; Bassuk, Alexander G.

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

HUMAN MOLECULAR GENETICS

IF3.2

2011-01-3139

OAAI

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2011-01-27377

OAAI

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

HUMAN MOLECULAR GENETICS

IF3.2

2011-01-2169

OAAI

Wnt5b-Ryk pathway provides directional signals to regulate gastrulation movement

JOURNAL OF CELL BIOLOGY

IF6.4

2010-07-2696

OAAI

Regulator of G Protein Signaling 3 Modulates Wnt5b Calcium Dynamics and Somite Patterning

IF3.7

2010-07-0828

OAAI

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2010-05-0166

OAAI

Activation of the planar cell polarity formin DAAM1 leads to inhibition of endothelial cell proliferation, migration, and angiogenesis

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2010-03-2967

OAAI

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

IF3.7

2010-03-1979

OAAI

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

BBS6，BBS10和BBS12与CCT/TRiC家族伴侣蛋白形成复合物，并介导bbsomebassembly

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2010-01-06285

OAAI

A Novel Role for MAPKAPK2 in Morphogenesis during Zebrafish Development

IF3.7

2009-03-1357

OAAI