标题
Ciliopathies
作者
关键词
-
出版物
NEW ENGLAND JOURNAL OF MEDICINE
Volume 364, Issue 16, Pages 1533-1543
出版商
New England Journal of Medicine (NEJM/MMS)
发表日期
2011-04-21
DOI
10.1056/nejmra1010172
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- (2010) Enza Maria Valente et al. NATURE GENETICS
- Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
- (2009) E A Otto et al. JOURNAL OF MEDICAL GENETICS
- Loss of Oriented Cell Division Does not Initiate Cyst Formation
- (2009) S. Nishio et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
- (2009) Stephanie L Bielas et al. NATURE GENETICS
- CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
- (2008) Abdul Noor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
- (2008) Carsten Bergmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
- (2008) Vincent Cantagrel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
- (2008) Jonna Tallila et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia
- (2008) Vishal Patel et al. HUMAN MOLECULAR GENETICS
- TheCaenorhabditis elegansnephrocystins act as global modifiers of cilium structure
- (2008) Andrew R. Jauregui et al. JOURNAL OF CELL BIOLOGY
- Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function
- (2008) I. Kim et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2
- (2008) E. Sohara et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis
- (2008) E. A. Otto et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
- (2008) Carmen C Leitch et al. NATURE GENETICS
- Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells
- (2008) Tae Joo Park et al. NATURE GENETICS
- Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
- (2007) Edgar A. Otto et al. HUMAN MUTATION
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