4.2 Article

Ciliary disorder of the skeleton

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。
Article Cell Biology

Architecture and function of IFT complex proteins in ciliogenesis

Michael Taschner et al.

DIFFERENTIATION (2012)

Article Genetics & Heredity

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Joyce El Hokayem et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Genetics & Heredity

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Christian Thiel et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Matthew L. Warman et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Review Biochemistry & Molecular Biology

Modeling Human Disease in Humans: The Ciliopathies

Gaia Novarino et al.

Article Genetics & Heredity

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Heleen H. Arts et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Genetics & Heredity

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis et al.

NATURE GENETICS (2011)

Article Genetics & Heredity

Complex interactions between genes controlling trafficking in primary cilia

Polloneal Jymmiel R. Ocbina et al.

NATURE GENETICS (2011)

Article Multidisciplinary Sciences

Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

Jian Qin et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Genetics & Heredity

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak-Sztulpa et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Weyers acrodental dysostosis in a family

Martin Roubicek et al.

CLINICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

Kinetics of Hedgehog-Dependent Full-Length Gli3 Accumulation in Primary Cilia and Subsequent Degradation

Xiaohui Wen et al.

MOLECULAR AND CELLULAR BIOLOGY (2010)

Review Genetics & Heredity

The primary cilium: a signalling centre during vertebrate development

Sarah C. Goetz et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Functional modules, mutational load and human genetic disease

Norann A. Zaghloul et al.

TRENDS IN GENETICS (2010)

Article Genetics & Heredity

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

Amy E. Merrill et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

Connective Tissue Involvement in Two Patients With Features of Cranioectodermal Dysplasia

Andrew E. Fry et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Genetics & Heredity

Ellis-van Creveld Syndrome and Weyers Acrodental Dysostosis Are Caused by Cilia-Mediated Diminished Response to Hedgehog Ligands

Victor L. Ruiz-Perez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2009)

Article Biochemistry & Molecular Biology

The NIMA-related kinase NEK1 cycles through the nucleus

Laura K. Hilton et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)

Editorial Material Biochemistry & Molecular Biology

SnapShot: Intraflagellar Transport

Douglas G. Cole et al.

Article Developmental Biology

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

R. W. Stottmann et al.

DEVELOPMENTAL BIOLOGY (2009)

Article Anatomy & Morphology

Primary cilia in osteoarthritic chondrocytes: From chondrons to clusters

S. R. McGlashan et al.

DEVELOPMENTAL DYNAMICS (2008)

Article Biochemistry & Molecular Biology

The mammalian Nek1 kinase is involved in primary cilium formation

Ohad Shalom et al.

FEBS LETTERS (2008)

Article Neurosciences

Dynein cleavage and microtubule accumulation in okadaic acid-treated neurons

Seung Yong Yoon et al.

NEUROSCIENCE LETTERS (2008)

Article Urology & Nephrology

Evidence of oligogenic inheritance in nephronophthisis

Julia Hoefele et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)

Article Multidisciplinary Sciences

Patched1 regulates Hedgehog signaling at the primary cilium

Rajat Rohatgi et al.

SCIENCE (2007)

Article Developmental Biology

Development of the post-natal growth plate requires intraflagellar transport proteins

Buer Song et al.

DEVELOPMENTAL BIOLOGY (2007)

Article Developmental Biology

Intraflagellar transport is essential for endochondral bone formation

Courtney J. Haycraft et al.

DEVELOPMENT (2007)

Article Genetics & Heredity

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients

Stuart W. J. Tompson et al.

HUMAN GENETICS (2007)

Review Developmental Biology

The roles of cilia in developmental disorders and disease

Brent W. Bisgrove et al.

DEVELOPMENT (2006)

Review Physiology

An incredible decade for the primary cilium: a look at a once-forgotten organelle

JR Davenport et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2005)

Article Multidisciplinary Sciences

Vertebrate Smoothened functions at the primary cilium

KC Corbit et al.

NATURE (2005)

Article Multidisciplinary Sciences

Cilia and Hedgehog responsiveness in the mouse

D Huangfu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Genetics & Heredity

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

VL Ruiz-Perez et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Genetics & Heredity

Diagnostic dilemmas in the short rib -: Polydactyly syndrome group

NH Elçioglu et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Multidisciplinary Sciences

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

P Upadhya et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Genetics & Heredity

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

VL Ruiz-Perez et al.

NATURE GENETICS (2000)