Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects - sprookjes - yvandenbroek - TriplyDB

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

http://www.wikidata.org/entity/Q24321486

about

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus Genetic factors contributing to human primary ciliary dyskinesia and male infertility Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes Accuracy of diagnostic testing in primary ciliary dyskinesia Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Novel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.miR-34/449 miRNAs are required for motile ciliogenesis by repressing cp110.Cryo-electron tomography of motile cilia and flagella The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Major protein alterations in spermatozoa from infertile men with unilateral varicocele.Cilia dysfunction in lung disease.Mutation analysis in patients with total sperm immotility RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Major regulatory mechanisms involved in sperm motility.Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Transcriptomic analysis comparing mouse strains with extreme total lung capacities identifies novel candidate genes for pulmonary function.Genetic basis of human left-right asymmetry disorders.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The evolving spectrum of ciliopathies and respiratory disease.Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella.Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.Transgenic characterization of two testis-specific promoters in the silkworm, Bombyx mori.Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.Sperm dysfunction and ciliopathy.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.

P2860

5051d8bbec5ab83e1f861285724c9b358f7008ef 9e5b652c51daad81749d6a4a9308eb4d35fce1b6 ab84481205fbfacd2b09a308822a80158afad205

P248

Q24304187-6A6C8FBB-FF78-4B83-A49B-D4D22345CBB0 Q26748534-C28F3A40-1CDF-4224-A294-FA86FFCD3A7A Q26770927-071D5A52-AB26-4192-96C2-0765AD40FB66 Q27321461-D1C4CF87-2D2D-41E3-8875-BC63097380A0 Q27324715-73E5DE14-2863-4CE1-8BE9-916A33A4871E Q28115323-B2476862-4182-4662-AB1E-CF2373A488D8 Q28116796-854D6070-BB22-411A-BCA6-C3BF96FF8E7E Q30372862-24F617D3-83BC-4313-A0C0-90F396DE67C6 Q30580167-464B8E34-215C-4A72-9B7F-DDB30D5CDB0A Q30585689-1714BDB8-009A-4D06-9D1D-9CEC2EB75EA3 Q30619433-CD14EC48-BB63-4EF2-A8F4-159988049CDC Q33640482-DD50B921-271F-44E4-88ED-69B10FBEE4AD Q33780616-2263CB21-954A-4245-BD25-B411B3543AFB Q34712472-8972AB76-EDFF-4EC9-99F7-10296D97A95A Q34852544-ED57ADC3-0328-4C3F-A798-3C751364A9BF Q34991358-1BAD0940-7457-4DE6-85A6-EEE25F6B5304 Q35091627-36C39497-3B2C-44FB-B4DC-F3F2D7F940DE Q35116940-5AE508EC-F43B-4785-B8AE-E1684FF9BD9D Q35210996-2CB4EAC4-246C-47AC-8B28-CFD0A6CCD06F Q35248437-7C1B71DB-A17A-4A56-B500-2AE41F7F3BBA Q35734837-2DAE3246-0C93-4CF1-97A5-0EC1A72B7A30 Q35816162-A5FB3225-4345-4336-8AC9-F602EF9AB9B6 Q36062870-423D8C1F-3FEE-418C-9D24-E41AF2FD482B Q36267724-3E212545-2C8A-4C53-9EB4-8F8ECFD085BA Q37581415-7B203207-4C52-4087-9B0B-9EECBA697910 Q37639900-BAE25F5D-E1A5-4A33-9BA7-964D3D5F8A7E Q37698245-49D7E7F2-CC49-455A-9BD2-745DA6B7CEE5 Q38430088-0AE1F20D-9D23-43D3-BEDA-E5504FA832A1 Q38563680-9DCDF147-7F81-4B4C-816C-626C4364CF81 Q38796206-44DCB63B-BDE1-4A89-AFB4-9F7FA1F96A1A Q38806129-FE761775-96B5-4F79-A870-6CB29325F485 Q39035466-1014997E-B63E-4EBC-89BA-B81033F076E3 Q40198800-AD0CF1B0-9363-4E32-B14E-D08B568226A3 Q40675859-D30D475B-2211-4526-92A4-8D8F2969929A Q40696787-558ACB22-2BB2-476D-BEA6-58AF77ECF9D3 Q42000766-EFE7BBBF-64E3-4D02-988A-E664F0936E62 Q42470274-376BE4D4-51AD-4794-8877-942C232F4F84 Q47171971-0D6A6914-CDE8-44B4-8788-A71A1CE263A6 Q47625348-A8106D4C-ADC8-4007-A0D7-864DB2D552A9 Q47771928-BC5A1CD7-22E4-4916-935D-A131597BB581

P2860

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

http://www.wikidata.org/entity/Q24321486

description

2013 nî lūn-bûn

@nan

2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Loss-of-function mutations in ...... mplex and radial-spoke defects

@ast

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en-gb

Loss-of-function mutations in ...... mplex and radial-spoke defects

@nl

type

label

Loss-of-function mutations in ...... mplex and radial-spoke defects

@ast

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en-gb

Loss-of-function mutations in ...... mplex and radial-spoke defects

@nl

prefLabel

Loss-of-function mutations in ...... mplex and radial-spoke defects

@ast

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en-gb

Loss-of-function mutations in ...... mplex and radial-spoke defects

@nl

P1433

Q24321486-DD34E542-01A3-4D18-AC7D-A4566FCA9A47

P1476

Q24321486-5BE2387B-F3EA-4EEA-B2A2-DBED214CC463

P2093

Q24321486-08E087ED-E3DE-43CF-A715-89D3041C2D27

Q24321486-13E09815-6730-4A02-95B7-6E16AA67D9A0

Q24321486-22247AC8-DD56-4D37-96BF-AA96F76B0A0E

Q24321486-37C8B2FF-5F51-4EE2-A5AE-C37E2593831F

Q24321486-4080DC97-89B7-4353-ADED-313DC222B7EB

Q24321486-49377D3E-FEF2-4824-9825-88793423D386

Q24321486-63955C73-2054-4AAC-96E4-2E6F482BF452

Q24321486-6894212E-E311-4996-A386-6C41D15971DE

Q24321486-68A35494-9E3C-46D8-8BBF-8AB5C3435937

Q24321486-6E5296D1-A30A-40EA-9C05-F5A0DF961D68

P2860

Q24321486-00652071-8467-411B-BB99-D4D02385F4A9

Q24321486-0308D010-A46B-4F94-AE24-E4FDCA5EE745

Q24321486-05BE609A-1867-4977-A7E4-E6EE79E328A7

Q24321486-0876C159-0C9F-474A-903B-E8FE59F2106F

Q24321486-0C5A299B-A133-4568-BB7D-21D94F64713D

Q24321486-10EB0C2E-1E32-49E4-9E92-5D2799D2F6B2

Q24321486-1B0980E7-EEC6-49DA-A9E2-88F2C0EB7D06

Q24321486-1CEAED07-1B55-4633-AA92-C8FEE1BCFBB7

Q24321486-2285CE41-845E-4648-A3B3-F4094FB9677C

Q24321486-2B709B33-D66C-4707-916F-8636A3CBF178

P304

Q24321486-5DD9B70B-4055-40E7-B44C-B7339C5FF539

P31

Q24321486-EEB7ACE6-524E-4D51-8AF3-C8BA707D944B

P3181

Q24321486-4AB49119-66F4-453A-B44A-3AC50D173E38

P356

Q24321486-7CDD3132-285B-428A-9F36-8C0CFD94D1C2

P407

Q24321486-600955FC-6B23-4F78-989E-0395BD5C96A7

P433

Q24321486-9EFCD11D-4C51-4585-A169-3B364BEEEAB0

P478

Q24321486-F34FED7A-44C4-4D16-860F-997D11218D2E

P50

Q24321486-3EAC467D-3D0F-4428-AA09-8A759BBAE977

Q24321486-420FC23E-50CF-44FB-B9AE-AC623BF2EA05

Q24321486-6E872C84-76F7-4C54-92AF-2CA65F890F34

Q24321486-762BFA70-D0B7-4904-835A-327BD8C0619F

P577

Q24321486-4921BC46-3269-45CD-A4AC-0CEAF04F9612

P5875

Q24321486-74C5F543-7CF3-4C37-AEFF-D66B9746032E

P698

Q24321486-C6C8E6D2-3B6D-497B-A237-2C5EE24B14DB

P921

Q24321486-1D183158-F016-45D9-9689-B19254A7A0BE

Q24321486-350F21CE-DA4F-4E1F-B06B-B602344B3838

Q24321486-F6F99859-D6C5-47D3-AA9D-097E322ACCCA

P932

Q24321486-D8868DD4-E2E0-4128-A86A-5A648F4B4C26

P3181

P356

J.AJHG.2013.07.013

P1433

American Journal of Human Genetics

P1476

Loss-of-function mutations in ...... mplex and radial-spoke defects

@en

P2093

Aline Tamalet

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

Anne-Marie Vojtek

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

Annick Clement

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

Benoit Vallette

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

Bruno Copin

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

Bruno Housset

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

Daniel Amram

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

Eric Deneuville

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

Estelle Escudier

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

Esther Kott

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

P2860

De novo formation of left-right asymmetry by posterior tilt of nodal cilia

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

P304

561-570

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

P31

scholarly article

P3181

3253639

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

P356

10.1016/J.AJHG.2013.07.013

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

P407

P433

3

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

P478

93

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

P50

Jean François Papon

P577

2013-08-29T00:00:00Z

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

P5875

256329866

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

P698

23993197

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

P921

axoneme assembly

Radial spoke head component 1

P932

3769924

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