Lista de obras - Hanka Venselaar - Dominio Público Uruguay

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.

artículo científico publicado en 2017

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

artículo científico publicado en 2013

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

scientific article published on 20 October 2011

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

artículo científico publicado en 2017

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response.

artículo científico publicado en 2014

A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics

artículo científico publicado en 2014

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

artículo científico publicado en 2014

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

artículo científico publicado en 2007

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

artículo científico publicado en 2012

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

artículo científico publicado en 2008

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

artículo científico publicado en 2015

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

artículo científico publicado en 2010

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics

artículo científico publicado en 2017

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

scientific journal article

Bacterial CS2 hydrolases from Acidithiobacillus thiooxidans strains are homologous to the archaeal catenane CS2 hydrolase

artículo científico publicado en 2013

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

artículo científico publicado en 2017

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

artículo científico publicado en 2011

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

artículo científico publicado en 2009

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

artículo científico publicado en 2014

Dominant missense mutations in ABCC9 cause Cantú syndrome.

artículo científico publicado en 2012

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

artículo científico publicado en 2009

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

artículo científico publicado en 2009

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis

artículo científico publicado en 2014

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

artículo científico publicado en 2008

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

artículo científico

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

artículo científico publicado en 2011

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

artículo científico publicado en 2016

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

artículo científico publicado en 2013

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

artículo científico publicado en 2015

Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae.

artículo científico publicado en 2015

Homology modelling and spectroscopy, a never-ending love story.

artículo científico publicado en 2010

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

artículo científico publicado en 2012

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Human dectin-1 deficiency and mucocutaneous fungal infections

artículo científico publicado en 2009

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

artículo científico publicado en 2016

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

artículo científico publicado en 2017

Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein

artículo científico publicado en 2015

Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.

artículo científico publicado en 2016

LRP5 variants may contribute to ADPKD

artículo científico publicado en 2015

Mass spectrometry analysis of hepcidin peptides in experimental mouse models

artículo científico publicado en 2011

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

artículo científico publicado en 2013

Membrane topology and intracellular processing of cyclin M2 (CNNM2).

artículo científico publicado en 2012

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

artículo científico publicado en 2011

Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues

artículo científico publicado en 2015

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

artículo científico publicado en 2017

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

artículo científico publicado en 2010

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

artículo científico publicado en 2018

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

artículo científico publicado en 2009

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

artículo científico publicado en 2013

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

artículo científico publicado en 2017

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

article by Ingrid M B H van de Laar et al published February 2011 in Nature Genetics

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

artículo científico publicado en 2015

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

artículo científico publicado en 2008

NPHP4 variants are associated with pleiotropic heart malformations

artículo científico publicado en 2012

Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands.

artículo científico publicado en 2006

NewProt - a protein engineering portal

artículo científico publicado en 2017

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

artículo científico publicado en 2015

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

artículo científico publicado en 2016

Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.

artículo científico publicado en 2012

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

artículo científico publicado en 2010

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

artículo científico publicado en 2017

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

artículo científico publicado en 2015

Retinal-Based Proton Pumping in the Near Infrared

artículo científico publicado en 2017

Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity.

artículo científico publicado en 2009

Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP.

artículo científico publicado en 2008

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

artículo científico publicado en 2015

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

artículo científico publicado en 2015

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

artículo científico publicado en 2013

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

artículo científico publicado en 2017

Status quo of annotation of human disease variants.

artículo científico publicado en 2013

Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.

artículo científico publicado en 2013

Submembranous recruitment of creatine kinase B supports formation of dynamic actin-based protrusions of macrophages and relies on its C-terminal flexible loop.

artículo científico publicado en 2014

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

artículo científico publicado en 2010

The alpha-kinase family: an exceptional branch on the protein kinase tree.

artículo científico publicado en 2009

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

artículo científico publicado en 2014

The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.

artículo científico publicado en 2010

The structure-function relationship of the Aspergillus fumigatuscyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance

scientific article published in 2011

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

artículo científico publicado en 2016

Variation in genes of β-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patients

artículo científico publicado en 2011

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome

artículo científico publicado en 2015

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

artículo científico publicado en 2014

Lista de obras de Hanka Venselaar

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response.

A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics

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

Bacterial CS2 hydrolases from Acidithiobacillus thiooxidans strains are homologous to the archaeal catenane CS2 hydrolase

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

CAD mutations and uridine-responsive epileptic encephalopathy.

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae.

Homology modelling and spectroscopy, a never-ending love story.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

Human dectin-1 deficiency and mucocutaneous fungal infections

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein

Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.

LRP5 variants may contribute to ADPKD

Mass spectrometry analysis of hepcidin peptides in experimental mouse models

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Membrane topology and intracellular processing of cyclin M2 (CNNM2).

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

NPHP4 variants are associated with pleiotropic heart malformations

Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands.

NewProt - a protein engineering portal

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Retinal-Based Proton Pumping in the Near Infrared

Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity.

Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Status quo of annotation of human disease variants.

Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.

Submembranous recruitment of creatine kinase B supports formation of dynamic actin-based protrusions of macrophages and relies on its C-terminal flexible loop.

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

The alpha-kinase family: an exceptional branch on the protein kinase tree.

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.