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。WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing
Ana R. G. De-Castro et al.
JOURNAL OF CELL BIOLOGY (2022)
WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing
Ana R. G. De-Castro et al.
JOURNAL OF CELL BIOLOGY (2021)
Loss of Zic3 impairs planar cell polarity leading to abnormal left-right signaling, heart defects and neural tube defects
Helen M. Bellchambers et al.
HUMAN MOLECULAR GENETICS (2021)
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways
Hailing Yin et al.
JOURNAL OF HUMAN GENETICS (2020)
Sonic hedgehog signaling directs patterned cell remodeling during cranial neural tube closure
Eric R. Brooks et al.
ELIFE (2020)
Dominant negative GPR161 rare variants are risk factors of human spina bifida
Sung-Eun Kim et al.
HUMAN MOLECULAR GENETICS (2019)
Cellular signalling by primary cilia in development, organ function and disease
Zeinab Anvarian et al.
NATURE REVIEWS NEPHROLOGY (2019)
Structure of the dynein-2 complex and its assembly with intraflagellar transport trains
Katerina Toropova et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2019)
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects
Mingqin Wang et al.
CELLS (2019)
Interactions of the dynein-2 intermediate chain WDR34 with the light chains are required for ciliary retrograde protein trafficking
Yuta Tsurumi et al.
MOLECULAR BIOLOGY OF THE CELL (2019)
Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects
Zhiwen Shi et al.
BIRTH DEFECTS RESEARCH (2018)
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Wolfgang Hofmeister et al.
HUMAN MUTATION (2018)
Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking
Yuki Hamada et al.
MOLECULAR BIOLOGY OF THE CELL (2018)
Emerging mechanisms of dynein transport in the cytoplasm versus the cilium
Anthony J. Roberts
BIOCHEMICAL SOCIETY TRANSACTIONS (2018)
The regulation of cilium assembly and disassembly in development and disease
Lei Wang et al.
DEVELOPMENT (2018)
Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function
Laura Vuolo et al.
ELIFE (2018)
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
Naseebullah Kakar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse
Chuanqing Wu et al.
HUMAN MOLECULAR GENETICS (2017)
Ick Ciliary Kinase Is Essential for Planar Cell Polarity Formation in Inner Ear Hair Cells and Hearing Function
Shio Okamoto et al.
JOURNAL OF NEUROSCIENCE (2017)
Genes and molecular pathways underpinning ciliopathies
Jeremy F. Reiter et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Microtubule Motors Drive Hedgehog Signaling in Primary Cilia
Mu He et al.
TRENDS IN CELL BIOLOGY (2017)
Neural tube closure: cellular, molecular and biomechanical mechanisms
Evanthia Nikolopoulou et al.
DEVELOPMENT (2017)
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
Carla Cossu et al.
CLINICA CHIMICA ACTA (2016)
Non-essential role for cilia in coordinating precise alignment of lens fibres
Yuki Sugiyama et al.
MECHANISMS OF DEVELOPMENT (2016)
Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans
Chunyue Miao et al.
G3-GENES GENOMES GENETICS (2016)
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea
Helen L. May-Simera et al.
DEVELOPMENT (2015)
Rare LRP6 Variants Identified in Spina Bifida Patients
Yunping Lei et al.
HUMAN MUTATION (2015)
Subunit composition of the human cytoplasmic dynein-2 complex
David Asante et al.
JOURNAL OF CELL SCIENCE (2014)
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
Celine Huber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
Aideen M. McInerney-Leo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Miriam Schmidts et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling
Saikat Mukhopadhyay et al.
CELL (2013)
The Continuing Challenge of Understanding, Preventing, and Treating Neural Tube Defects
John B. Wallingford et al.
SCIENCE (2013)
IFT88 Plays a Cilia- and PCP-Independent Role in Controlling Oriented Cell Divisions during Vertebrate Embryonic Development
Antonia Borovina et al.
CELL REPORTS (2013)
Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
Kerry A. Miller et al.
PLOS GENETICS (2013)
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies
Alyson Ashe et al.
HUMAN MOLECULAR GENETICS (2012)
Mutations in the Planar Cell Polarity Genes CELSR1 and SCRIB are Associated with the Severe Neural Tube Defect Craniorachischisis
Alexis Robinson et al.
HUMAN MUTATION (2012)
Cdx mediates neural tube closure through transcriptional regulation of the planar cell polarity gene Ptk7
Joanne G. A. Savory et al.
DEVELOPMENT (2011)
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)
The Relationship between Sonic Hedgehog Signaling, Cilia, and Neural Tube Defects
Jennifer N. Murdoch et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2010)
Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling
Pedro P. Rocha et al.
DEVELOPMENT (2010)
PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals
Huiqing Zeng et al.
DEVELOPMENTAL BIOLOGY (2010)
The primary cilium: a signalling centre during vertebrate development
Sarah C. Goetz et al.
NATURE REVIEWS GENETICS (2010)
Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Su Kyoung Kim et al.
SCIENCE (2010)
Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4
Salvatore Cortellino et al.
DEVELOPMENTAL BIOLOGY (2009)
Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
R. W. Stottmann et al.
DEVELOPMENTAL BIOLOGY (2009)
Planar Cell Polarity Effector Gene Fuzzy Regulates Cilia Formation and Hedgehog Signal Transduction in Mouse
Westley Heydeck et al.
DEVELOPMENTAL DYNAMICS (2009)
Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling
Ryan X. Norman et al.
HUMAN MOLECULAR GENETICS (2009)
Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway
Victoria L. Patterson et al.
HUMAN MOLECULAR GENETICS (2009)
The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development
Ryan S. Gray et al.
NATURE CELL BIOLOGY (2009)
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling
TJ Park et al.
NATURE GENETICS (2006)
Efficient transposition of the piggyBac resource (PB) transposon in mammalian cells and mice
S Ding et al.
CELL (2005)
Human neural tube defects: Developmental biology, epidemiology, and genetics
ER Detrait et al.
NEUROTOXICOLOGY AND TERATOLOGY (2005)
分享论文
