Lista de obras - Clare Victoria Logan - Dominio Público Uruguay

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

artículo científico publicado en 2015

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

artículo científico publicado en 2015

A meckelin-filamin A interaction mediates ciliogenesis

artículo científico publicado en 2012

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

scientific journal article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

artículo científico publicado en 2012

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain ⬇️

artículo científico publicado en 2015

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

artículo científico publicado en 2014

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

artículo científico publicado en 2012

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

artículo científico publicado en 2012

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

artículo científico publicado en 2011

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

artículo científico publicado en 2015

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

artículo científico publicado en 2011

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

scientific journal article

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

artículo científico

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

artículo científico publicado en 2013

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects

artículo científico publicado en 2010

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

artículo científico publicado en 2014

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

artículo científico publicado en 2011

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

artículo científico publicado en 2012

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

artículo científico publicado en 2011

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

artículo científico publicado en 2012

Mutations in TJP2 cause progressive cholestatic liver disease

artículo científico publicado en 2014

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

artículo científico publicado en 2008

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

artículo científico publicado en 2012

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

scientific journal article

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

artículo científico publicado en 2011

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

artículo científico publicado en 2016

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

artículo científico publicado en 2012

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

artículo científico publicado en 2008

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

artículo científico publicado en 2013

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

artículo científico publicado en 2013

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

artículo científico publicado en 2015

Molecular genetics and functional characterisation of ciliopathies

tesis doctoral; 2012

Lista de obras de Clare Victoria Logan

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

A meckelin-filamin A interaction mediates ciliogenesis

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

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain ⬇️

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in TJP2 cause progressive cholestatic liver disease

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

Molecular genetics and functional characterisation of ciliopathies