Lista de obras - Richard P. Lifton - Dominio Público Uruguay

A form of the metabolic syndrome associated with mutations in DYRK1B

artículo científico publicado en 2014

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum

scientific journal article

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

artículo científico publicado en 2016

An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis

artículo científico publicado en 2007

Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway

artículo científico publicado en 2009

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease

artículo científico publicado en 2010

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

artículo científico publicado en 2015

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

artículo científico publicado en 2014

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

artículo científico publicado en 2004

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

artículo científico publicado en 2012

Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates

artículo científico publicado en 2014

Genes and environment in neonatal intraventricular hemorrhage

artículo científico publicado en 2015

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

artículo científico publicado en 2009

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

artículo científico publicado en 2009

Genome-wide association study of intracranial aneurysm identifies three new risk loci

artículo científico publicado en 2010

High bone density due to a mutation in LDL-receptor-related protein 5

artículo científico publicado en 2002

Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers.

artículo científico publicado en 2015

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

artículo científico publicado en 2014

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

artículo científico publicado en 2002

Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4 ⬇️

artículo científico publicado el 7 de mayo de 2013

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

artículo científico publicado en 2003

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13

artículo científico publicado en 2004

Mice lacking the B1 subunit of H+ -ATPase have normal hearing

scientific journal article

Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit ⬇️

artículo científico publicado el 30 de octubre de 2003

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

artículo científico publicado en 2008

Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4

artículo científico publicado en 2003

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

artículo científico publicado en 2011

Mutations in SEC63 cause autosomal dominant polycystic liver disease

artículo científico publicado en 2004

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

artículo científico publicado en 2015

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

artículo científico publicado en 2012

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

artículo científico publicado en 2014

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

artículo científico publicado en 2008

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

artículo científico publicado en 2013

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension

artículo científico publicado en 2016

Sequence variants in SLITRK1 are associated with Tourette's syndrome

artículo científico publicado en 2005

Skint-1 is a highly specific, unique selecting component for epidermal T cells

scientific journal article

Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells

scientific journal article

Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi

artículo científico publicado en 2013

Susceptibility loci for intracranial aneurysm in European and Japanese populations

artículo científico publicado en 2008

The B1-subunit of the H(+) ATPase is required for maximal urinary acidification

scientific journal article

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

artículo científico publicado en 2015

WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters

artículo científico publicado en 2011

WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis

artículo científico publicado en 2005

WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia

artículo científico publicado en 2004

WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion ⬇️

artículo científico publicado el 9 de noviembre de 2003

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

artículo científico publicado en 2010

Lista de obras de Richard P. Lifton

A form of the metabolic syndrome associated with mutations in DYRK1B

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis

Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates

Genes and environment in neonatal intraventricular hemorrhage

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Genetic studies of body mass index yield new insights for obesity biology

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

Genome-wide association study of intracranial aneurysm identifies three new risk loci

High bone density due to a mutation in LDL-receptor-related protein 5

Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers.

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4 ⬇️

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13

Mice lacking the B1 subunit of H+ -ATPase have normal hearing

Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit ⬇️

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension

Sequence variants in SLITRK1 are associated with Tourette's syndrome

Skint-1 is a highly specific, unique selecting component for epidermal T cells

Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells

Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi

Susceptibility loci for intracranial aneurysm in European and Japanese populations

The B1-subunit of the H(+) ATPase is required for maximal urinary acidification

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters

WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis

WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia

WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion ⬇️

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations