Lista de obras -

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

artículo científico publicado en 2010

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

artículo científico publicado en 2013

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

artículo científico publicado en 2013

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

artículo científico publicado en 2009

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

CiliaCarta: An integrated and validated compendium of ciliary genes

artículo científico publicado en 2019

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

artículo científico publicado en 2018

Conserved co-expression for candidate disease gene prioritization

artículo científico publicado en 2008

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

artículo científico publicado en 2016

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

artículo científico publicado en 2012

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

artículo científico publicado en 2011

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

scientific article published on 26 May 2020

Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry

artículo científico publicado en 2014

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

artículo científico publicado en 2007

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

artículo científico publicado en 2015

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling

artículo científico publicado en 2017

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

artículo científico publicado en 2005

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

artículo científico publicado en 2013

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

artículo científico publicado en 2012

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

artículo científico publicado en 2015

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

artículo científico publicado en 2020

Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients

artículo científico publicado en 2013

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

artículo científico publicado en 2015

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

artículo científico publicado en 2015

Tandem affinity purification of ciliopathy-associated protein complexes

artículo científico publicado en 2009

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function

artículo científico publicado en 2015

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

artículo científico publicado en 2011

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Lista de obras de

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

CiliaCarta: An integrated and validated compendium of ciliary genes

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Conserved co-expression for candidate disease gene prioritization

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

Tandem affinity purification of ciliopathy-associated protein complexes

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation