Lista de obras - Fiona E Karet - Dominio Público Uruguay

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

artículo científico publicado en 2004

An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration

artículo científico publicado en 1995

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants

artículo científico publicado en 2010

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

artículo científico publicado en 1996

Bovril and moclobemide: a novel therapeutic strategy for central autonomic failure

scientific article published on 01 November 1994

Cellular physiology of the renal H+ATPase.

artículo científico publicado en 2009

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure ⬇️

artículo científico publicado el 27 de octubre de 2011

Characterization of peptide and nonpeptide antagonists in human kidney

artículo científico publicado en 1995

Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5

artículo científico publicado en 2004

Comparative quantification of endothelin receptor mRNA in human kidney: new tools for direct investigation of human tissue

article

Disorders of Water and Acid-Base Homeostasis ⬇️

artículo científico publicado el 11 de noviembre de 2010

Endothelin and the human kidney: a potential target for new drugs

artículo científico publicado en 1994

Endothelin peptides and receptors in human kidney

artículo científico publicado en 1996

Examining Patients - an introduction to clinical medicine.

artículo científico publicado en 1991

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

scientific article published on 01 October 1996

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

artículo científico publicado en 1996

Glyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidney

scientific journal article

Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1 ⬇️

artículo científico publicado en 2008

Human kidney: endothelin isoforms detected by HPLC with radioimmunoassay and receptor subtypes detected using ligands BQ123 and BQ3020

artículo científico publicado en 1993

Human urinary exosomes as innate immune effectors

artículo científico publicado en 2014

Hypertension

Importance of early audiologic assessment in distal renal tubular acidosis

artículo científico publicado en 2010

Inherited distal renal tubular acidosis.

artículo científico publicado en 2002

Inherited renal acidoses.

artículo científico publicado en 2007

Inherited renal tubular acidosis

scientific article published on 01 January 2000

Interpretation of blood films in diagnosis of malaria.

artículo científico publicado en 1989

Life-threatening metabolic alkalosis in Pendred syndrome

artículo científico publicado en 2011

Lipoprotein glomerulopathy: a new role for apolipoprotein E?

artículo científico publicado en 1997

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

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

artículo científico publicado en 1999

Localization of endothelin peptides in human kidney

artículo científico publicado en 1996

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

artículo científico publicado en 2012

Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component

artículo científico publicado en 2007

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis

artículo científico publicado en 2002

Monogenic tubular salt and acid transporter disorders.

artículo científico publicado en 2002

Mutations contributing to human blood pressure variation.

artículo científico publicado en 1997

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

artículo científico publicado en 2004

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

artículo científico publicado en 1998

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

artículo científico publicado en 1999

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

artículo científico publicado en 2003

Novel ligands BQ123 and BQ3020 characterize endothelin receptor subtypes ETA and ETB in human kidney

scientific article published on 01 July 1993

PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.

artículo científico publicado en 2017

Polarisation, key to good localisation

artículo científico publicado en 2006

Practical Guide to the Care of the Medical Patient

Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion

scientific journal article

Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes

artículo científico publicado en 2003

RhCG is the major putative ammonia transporter expressed in the human kidney, and RhBG is not expressed at detectable levels.

scientific article published on 08 April 2009

Salt handling and hypertension.

artículo científico publicado en 2006

Targeting the renin-angiotensin system in patients with renal disease

artículo científico publicado en 2002

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

artículo científico publicado en 2004

Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney

artículo científico publicado en 2017

Uromodulin exclusion list improves urinary exosomal protein identification ⬇️

artículo científico publicado el 1 de diciembre de 2011

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

artículo científico publicado en 2009

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone

artículo científico publicado en 2005

Vasopressin induces expression of the Cl-/HCO3- exchanger SLC26A7 in kidney medullary collecting ducts of Brattleboro rats

scientific journal article

[125I]-PD151242: a selective ligand for endothelin ETA receptors in human kidney which localizes to renal vasculature.

artículo científico publicado en 1994

Lista de obras de Fiona E Karet

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Bovril and moclobemide: a novel therapeutic strategy for central autonomic failure

Cellular physiology of the renal H+ATPase.

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure ⬇️

Characterization of peptide and nonpeptide antagonists in human kidney

Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5

Comparative quantification of endothelin receptor mRNA in human kidney: new tools for direct investigation of human tissue

Disorders of Water and Acid-Base Homeostasis ⬇️

Endothelin and the human kidney: a potential target for new drugs

Endothelin peptides and receptors in human kidney

Examining Patients - an introduction to clinical medicine.

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Glyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidney

Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1 ⬇️

Human kidney: endothelin isoforms detected by HPLC with radioimmunoassay and receptor subtypes detected using ligands BQ123 and BQ3020

Human urinary exosomes as innate immune effectors

Hypertension

Importance of early audiologic assessment in distal renal tubular acidosis

Inherited distal renal tubular acidosis.

Inherited renal acidoses.

Inherited renal tubular acidosis

Interpretation of blood films in diagnosis of malaria.

Life-threatening metabolic alkalosis in Pendred syndrome

Lipoprotein glomerulopathy: a new role for apolipoprotein E?

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

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

Localization of endothelin peptides in human kidney

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis

Monogenic tubular salt and acid transporter disorders.

Mutations contributing to human blood pressure variation.

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

Novel ligands BQ123 and BQ3020 characterize endothelin receptor subtypes ETA and ETB in human kidney

PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.

Polarisation, key to good localisation

Practical Guide to the Care of the Medical Patient

Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion

Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes

RhCG is the major putative ammonia transporter expressed in the human kidney, and RhBG is not expressed at detectable levels.

Salt handling and hypertension.

Targeting the renin-angiotensin system in patients with renal disease

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney

Uromodulin exclusion list improves urinary exosomal protein identification ⬇️

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone

Vasopressin induces expression of the Cl-/HCO3- exchanger SLC26A7 in kidney medullary collecting ducts of Brattleboro rats

[125I]-PD151242: a selective ligand for endothelin ETA receptors in human kidney which localizes to renal vasculature.