Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
about
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansSpecialized Cilia in Mammalian Sensory SystemsThe role of primary cilia in the development and disease of the retinaCilia/Ift protein and motor -related bone diseases and mouse modelsNephronophthisis and related syndromesMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAdvances in Skeletal Dysplasia GeneticsIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeThe IFT-A complex regulates Shh signaling through cilia structure and membrane protein traffickingGenome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental diseaseDistinct functions for IFT140 and IFT20 in opsin transportCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions.Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.Getting to the heart of intraflagellar transport using Trypanosoma and Chlamydomonas models: the strength is in their differences.New insights into an old organelle: meeting report on biology of cilia and flagellaPartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityNew mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathiesCilia and DiseasesDeacetylation of α-tubulin and cortactin is required for HDAC6 to trigger ciliary disassembly.Mutations in human IFT140 cause non-syndromic retinal degenerationIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Current insights into renal ciliopathies: what can genetics teach us?Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Role for the IFT-A Complex in Selective Transport to the Primary Cilium.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Emerging role of primary cilia as mechanosensors in osteocytes
P2860
Q24318295-2A331A87-59A2-438D-BD73-00DA86FD29A9Q24338649-E815403E-3819-4F28-807C-DFADD329322DQ26785912-A1401F6D-1311-4736-A745-AB6E6D564D9DQ26822720-93500DDD-DF4C-4794-B7E5-854EED16E701Q26865112-3BE17BC7-5D1B-41A3-8900-5E66237E8070Q28081939-664DA79B-FDA8-4EB8-8F13-EEB2FC2C97C6Q28119115-EC627FF0-354A-4FFB-A617-0CFBED908E53Q28261525-5B2B2195-8F31-440E-827C-F72E26F8C794Q28307163-DC761836-46C5-413D-A127-D9E9214C9307Q28506316-32AB6426-C6C2-400B-BA98-95BA968E9EBBQ28509829-B95C35FD-8F3F-4A92-A2FC-F2A180761482Q28513960-5FA2DFBA-4FF7-4136-9243-5E56C78B3E29Q28585739-21FD8394-9BF4-4315-9BCB-693819C4E6A2Q28709034-94A700DB-C40C-4D2B-B836-8C640604650EQ29144881-DBD72EAC-8864-4261-95B3-92DF9F8BDAD8Q29147434-B241B77B-0E2F-4B87-A07E-0158D2ED1BE4Q29147553-BC15059A-49B2-4AE2-BF7B-DAB973421893Q29147558-218251A8-122C-4ECF-A2F9-51105A9F511EQ29465790-EAC21EAA-1392-4D7C-A2ED-48CFB7E21332Q30586569-DC201319-DC88-46DD-839B-5035BEE4C468Q30613030-F6EA3C75-24A5-4952-91C9-148BEFCA5C28Q33588154-EF44AB2C-EAD3-41A3-A841-A97803BCDFE7Q33637591-3ED15B7E-9AEA-4AF6-9E78-E3F1BA6F6ADEQ33919216-81B84064-F0D5-4D0F-BE32-0E12191E3643Q34000871-FA12A2DD-2CDE-4C44-AB06-D994A506B74FQ34043850-7722005F-AF81-4A9C-9030-692EDFBFE6C1Q35078642-91714107-00C6-4597-B2F7-1326BB4817A3Q35229307-04B3A4E4-3F47-46B9-B55E-D4E661B12FF7Q35571167-3FCB1411-34B7-449D-8D5D-095756A0A7DAQ35922131-2C16752E-F86F-4AB3-9C39-2667F05AA6A6Q36048072-8E8DE3C9-0657-4310-8FBC-6C4C1809D9DBQ36209043-5925AB27-16CB-48CA-97EC-74D4C279C3DAQ36282451-2EF672E6-92C3-45DB-BFF4-B664480B90BDQ36463209-D8120B8E-B7F7-4E9E-A967-C0CAB5CAC335Q36780455-3D3F2FAA-AE36-4164-8DBA-38E8F25B0F20Q37281697-EB97AF46-01C7-4D43-911E-1129050560F6Q37441973-187107EA-DA96-44F7-A911-A957A661E398Q37747558-A093E302-7224-4B09-AFAF-173CF8954444Q38030482-B619079C-D0ED-4959-A54D-EE4FA4F74ED3Q38064200-FC7D4977-CB3D-4AB7-80AD-1C4329A956E6
P2860
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@ast
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en-gb
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@nl
type
label
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@ast
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en-gb
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@nl
prefLabel
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@ast
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en-gb
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@nl
P2093
P2860
P50
P3181
P1476
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
@en
P2093
Christine Pietrement
Christophe Orssaud
Clarisse Baumann
Emilie Filhol
Felicity Collins
Heleen H Arts
Jamal Goumid
Karine Bigot
Machteld M Oud
Mohammed Zahrate
P2860
P304
P3181
P356
10.1016/J.AJHG.2012.03.006
P407
P50
P577
2012-05-04T00:00:00Z