Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome - Wikidata - awgldk - TriplyDB

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

http://www.wikidata.org/entity/Q24644490

about

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease NEK1 mutations cause short-rib polydactyly syndrome type majewski Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III Cilia/Ift protein and motor -related bone diseases and mouse models DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia Complex interactions between genes controlling trafficking in primary cilia Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis Mechanical dynamics in live cells and fluorescence-based force/tension sensors Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.The role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas.Smoking is associated with shortened airway cilia Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Transcriptome analysis of newt lens regeneration reveals distinct gradients in gene expression patterns.Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton A unified taxonomy for ciliary dyneins Dynein and intraflagellar transport.The ciliopathies: a transitional model into systems biology of human genetic disease.A review of hedgehog signaling in cranial bone development WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.Intraflagellar transport gene expression associated with short cilia in smoking and COPD.Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Ciliary disorder of the skeleton.Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.

P2860

Q21144917-037F65A1-BA59-4530-A687-40289B403481 Q24299173-FBAC0008-38BD-4D4C-8EBE-CFFB9963F516 Q24318295-DD1A0CBC-7DBA-49F0-9D03-0133133508E3 Q24324062-4A55E9E2-D1F4-46E2-9E24-F0BFDE91D1F8 Q24629863-7A95A244-1B4F-48AD-A5EB-6AA6C0631D15 Q24645415-57373AA3-95B6-422C-9C85-F04C9C80F329 Q26865112-39DE3399-CEA4-41DC-96C6-A8E48CE39BA7 Q28115665-562B4CD7-724C-49A5-8970-3D55689AB244 Q28283137-241A7989-770E-4F68-8144-58C45C98A74D Q28506229-7120F51A-4C0E-4DFE-A0C2-45999E0FD9DA Q28512423-9218883B-A864-408F-B777-EDE3F74F258D Q28585520-FB28FD1A-7469-4CDA-B3C3-2B262AE472CE Q28593506-293CC3C4-D90D-4150-93D0-6717350C6B56 Q28709034-19E0F9A4-9A40-4B09-A19B-B152507DF658 Q28771739-4FE42310-DAF5-4C15-AFD6-3DF7F28332AE Q28834419-E7D54C47-C8B8-4464-AC17-430A826D5CDC Q29147434-B2BF4523-B099-456D-9DA6-2F3B5C1AABBC Q29147558-E5F58986-FA9A-4E4D-9727-C9AC46985D41 Q29465790-24F2FF55-EE7F-42A6-90CB-82782AB11A20 Q30791958-738BF18A-3576-493D-B3A9-0FF36C7992D4 Q33519042-331B56EB-26A1-412B-B497-EB9F535A60D2 Q33557452-650C09FC-88E6-4E9E-933C-3126D2A5E5E1 Q33919216-EE87A249-3867-4440-A530-0285B524846E Q34380805-3C4BBF4B-4E8C-4A08-8FBB-CE46D256C446 Q34684392-CCE6DB41-B478-4AA5-A5C6-BCB87A1CC619 Q35101099-7A22714C-B5A1-4389-ACCD-9F5792071FDB Q35567544-3724589F-7C75-494F-975E-EB4A6805312C Q35612985-8E997C18-50D3-4ADF-9FA0-3CC5A07D7EC4 Q36433131-0AE73282-4EFF-429C-B765-212B9C773FB6 Q36732493-378308BB-0120-4C03-B9E2-305ABFA200BD Q37131481-6735E70D-0830-4E3F-9CA3-5BD05F10B651 Q37161998-B9262932-B394-43C6-8999-5116401493FB Q37281697-EA5533BD-EC17-429B-9344-7805117D4ECC Q37298127-0B6B086C-18D8-4DF6-A23C-46D5A576A8B4 Q37495750-1C97AF71-D706-4979-848A-AB2DFE4E5B8F Q37572954-1B7C3276-FD17-424A-BDF6-86C05165E457 Q37747558-C1B22086-BFB8-4936-8E8A-506F5AFF097F Q38026010-DACDF4E3-9E50-40F3-BA3E-6B86B01D43F1 Q38051564-B7C65543-9B16-4921-A3F9-AE6A45E30596 Q38066984-0B90E376-D21A-407D-A88B-5F72629FFEFE

P2860

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

http://www.wikidata.org/entity/Q24644490

description

2009 nî lūn-bûn

@nan

2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@ast

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@en

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@nl

type

label

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@ast

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@en

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@nl

prefLabel

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@ast

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@en

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@nl

P1433

Q24644490-8D356297-ED2B-451E-9D27-9C2B5233188F

P1476

Q24644490-35B1487C-BE20-493C-8D27-529284D16932

P2093

Q24644490-140BC28D-013C-4B50-B6CB-CB8A100CB564

Q24644490-479A9097-F749-422C-8BF8-190FD9748FBD

Q24644490-49A92C5F-1BED-4CFF-9BF8-A59D8A13E1FA

Q24644490-4D31BA4D-5B6A-4AA4-8699-27E2E0669045

Q24644490-4E64B242-5E17-4FA9-BF71-A3B67716E95E

Q24644490-5AE97E26-FCCC-4C16-8B49-B250B63223DC

Q24644490-6E0F877F-2CBA-4963-9B20-BF8C7274FE6F

Q24644490-7CF24B07-94AF-461A-93AE-5B7A915791E5

Q24644490-8543BF1F-E9D4-4AC9-B9BA-79DD8D493B29

Q24644490-9AE0291D-9F57-47CB-BCE8-3A9D20B278E5

P2860

Q24644490-0B51C129-6408-41BD-BA08-E1BDD5F8395A

Q24644490-0F1F3B68-BCB5-4D4F-9CAA-F24F1B3438FA

Q24644490-17C52E7F-1432-4225-AB94-7CCA5B7BA334

Q24644490-1B301D15-9207-4F24-BC0D-6A0A0C1CD4B5

Q24644490-1C6D5FA9-D0B8-49C6-BC59-049AC1000B4F

Q24644490-36BA7EDE-7EBD-4A00-8B0C-DC0BE31A551E

Q24644490-3EF8177F-6346-4470-BF9F-7B7C69399CA0

Q24644490-49ADFC53-0525-4976-862E-4C89EAB7D1BD

Q24644490-54116EA8-770E-4084-B772-E6DDD22D6720

Q24644490-5AB18FA1-60F6-4734-8A80-D97FE26CB9B3

P304

Q24644490-0A98887E-6D92-45E8-A48B-5C03B8262A8E

P31

Q24644490-E1AFCF4C-3D82-41D0-8AF4-B7B23C496D68

P3181

Q24644490-107111EE-0F29-4F6D-8C34-AA3E570A6212

P356

Q24644490-839F6517-FCBB-43D0-8D40-3F19038B2B0A

P407

Q24644490-15F9B4D1-DD04-4D47-B78F-A45AB86050FD

P433

Q24644490-8D039A99-BFA3-4E4C-B775-C95284FC3078

P478

Q24644490-C3653904-B479-4089-89E0-8A6C5FC08ADF

P577

Q24644490-5B2BF28F-DB6A-4E12-8776-9FDA3BB7372E

P5875

Q24644490-968E8A0D-74FA-4089-91A9-1088809DEE01

P698

Q24644490-3CAAF6A5-B422-4907-B0FF-817762D9586A

P932

Q24644490-40219B05-8029-4894-8DDC-E5CD64F57B73

P3181

P356

J.AJHG.2009.03.015

P1433

American Journal of Human Genetics

P1476

Ciliary abnormalities due to d ...... short-rib polydactyly syndrome

@en

P2093

Alicia K Thompson

http://www.w3.org/2001/XMLSchema#string

Amy E Merrill

http://www.w3.org/2001/XMLSchema#string

Barry Merriman

http://www.w3.org/2001/XMLSchema#string

Claire Farrington-Rock

http://www.w3.org/2001/XMLSchema#string

Daniel H Cohn

http://www.w3.org/2001/XMLSchema#string

David L Rimoin

http://www.w3.org/2001/XMLSchema#string

Deborah Krakow

http://www.w3.org/2001/XMLSchema#string

Eiman T Sebald

http://www.w3.org/2001/XMLSchema#string

Marc H Firestein

http://www.w3.org/2001/XMLSchema#string

Mary Ann Priore

http://www.w3.org/2001/XMLSchema#string

P2860

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

Localization of extracellular matrix receptors on the chondrocyte primary cilium

Microtubule polymerization dynamics

The nonsense-mediated decay RNA surveillance pathway

Cilia and developmental signaling

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Cilia and Hedgehog responsiveness in the mouse

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

P304

542-9

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

3349171

http://www.w3.org/2001/XMLSchema#string

P356

10.1016/J.AJHG.2009.03.015

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

84

http://www.w3.org/2001/XMLSchema#string

P577

2009-04-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

24273037

http://www.w3.org/2001/XMLSchema#string

P698

19361615

http://www.w3.org/2001/XMLSchema#string

P932

2667993

http://www.w3.org/2001/XMLSchema#string