about
The Ciliopathies: An Emerging Class of Human Genetic DisordersExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingBasal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeEndoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cellsDissection of epistasis in oligogenic Bardet-Biedl syndromeTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyDisruptive CHD8 mutations define a subtype of autism early in developmentIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyBardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signalingEvolutionarily assembled cis-regulatory module at a human ciliopathy locusDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationCHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsMutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRecruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnessesA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsCCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesA novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 geneLoss of δ-catenin function in severe autismThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationThe Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansPitchfork regulates primary cilia disassembly and left-right asymmetryIdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociLoss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportAge-severity relationships in families linked to FCD2 with retroillumination photographyNewfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaGenetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationClinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studyGenome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
P50
Q22337032-941CC521-EE43-4DA6-92FF-010BF0984BF0Q24294774-BF4C8574-B6A8-4230-A6AE-8F1EB34C136EQ24296493-D7E7F40A-0829-4775-823E-8EF6A5F199D4Q24297899-F9D585DA-611F-47A6-8E2B-9D65B95F542BQ24297989-58F84AB0-F197-4783-AB45-FE4906AF8CD6Q24299114-EF058079-8924-4C52-BB8C-D88B972E64ACQ24299464-28407F4A-33C6-4599-A648-B331D58998E4Q24300432-4CFB47E0-4426-4E88-8339-3BABD03AB9FBQ24300810-8EBD0C26-1C24-44EF-BE6D-210E37D67021Q24301800-6ACFBC04-3994-4799-AE4B-23054262D3FDQ24303601-B5DE0253-55D9-4B49-A66F-3BB756C22A10Q24304311-5E079DE8-8B62-4EA5-B65B-B6D646D2D789Q24305288-B468A5ED-15E2-40CC-B59A-BEDB16C55E0BQ24306218-C84702ED-D87D-4C79-A5A6-520B4AB8C1B2Q24307830-5C9EACF3-1E3C-47A1-A4DF-FC32E7D15000Q24309410-410DE61B-C827-41EB-9245-0A24AF2BBCB7Q24309499-76104717-5921-4658-B1B0-48AE739D4BC5Q24310078-D73314ED-92A3-43EC-B331-452E2CB30CEEQ24312161-0E854C0A-978B-4764-93C4-A9CCBAB66EC7Q24312749-142E1D29-2708-44FA-AA45-BFC81434D775Q24312935-AFFBA4FF-61FA-4A2A-9CC1-55D84CE3CA7EQ24321463-3D9ADCD2-3F5E-47ED-89D4-4966C666CC71Q24324214-3F9E3CF3-F3C5-4B0D-8360-585A95EFA959Q24337819-FF236D93-EFB3-4E0F-8753-DB893CE1F351Q24337908-817DEB01-AAAB-4D06-817D-C7F0654AE69AQ24338649-3DBE2DFE-3ADA-48C7-B559-4C7C07B737E6Q24339279-09D24F31-FA18-4E3E-9C55-6AC44F59A0DEQ24531954-C1845653-04F9-4FEB-A31A-D5B819F3DC5DQ24532021-AB597552-916C-404A-9291-F4A7B667EF8FQ24534394-089ACAA2-FCA2-4FF0-873C-F3D60882FDF1Q24536206-34E319DB-835C-4B4B-B4F7-090B479C1DC3Q24564553-AB11F1A5-B999-4967-A32E-974AB4B48035Q24601547-9154302E-0CB2-414E-A3E4-C8ABABB10E5DQ24613414-39F1571B-36F0-453B-ACDE-D24AB56FD9BDQ24619758-349E0D24-E50F-41AD-BA6F-1A69DF5F614BQ24622351-85AD21F8-9E2A-4C1B-97F6-01EB1C615D32Q24622509-29BE85CB-54F6-4F44-98A2-8F84F1085A6FQ24622766-4AC0D425-7ECB-4ABF-85BD-1AB2EE3A26ABQ24625476-1DC8A0D2-59A4-4E27-B665-CDEFAA75DFAAQ24629863-6622084F-1B9B-406F-91C7-24EC7ECBD9FB
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Nicholas Katsanis
@ast
Nicholas Katsanis
@en
Nicholas Katsanis
@es
Nicholas Katsanis
@fr
Nicholas Katsanis
@sl
type
label
Nicholas Katsanis
@ast
Nicholas Katsanis
@en
Nicholas Katsanis
@es
Nicholas Katsanis
@fr
Nicholas Katsanis
@sl
prefLabel
Nicholas Katsanis
@ast
Nicholas Katsanis
@en
Nicholas Katsanis
@es
Nicholas Katsanis
@fr
Nicholas Katsanis
@sl
P106
P1153
7003940773
P166
P21
P31
P496
0000-0002-2480-0171
P569
2000-01-01T00:00:00Z