Lista de obras - Amrik Sahota - Dominio Público Uruguay

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus ⬇️

artículo científico publicado el 1 de mayo de 1991

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

artículo científico publicado en 2001

2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney

artículo científico publicado en 2009

2302 CYSTINE ANALOGS AS POTENTIAL THERAPEUTIC AGENTS FOR CYSTINURIA

scholarly article

A Rapid Screening Method for Inborn Errors of Purine and Pyrimidine Metabolism Using Isotachophoresis ⬇️

artículo científico publicado el 1 de enero de 1979

A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.

artículo científico publicado en 1991

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

scientific article published on 01 October 1978

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

artículo científico publicado en 1978

Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure

artículo científico publicado en 1993

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

scientific journal article

Adenosine and deoxyadenosine metabolism in the erythrocytes of a patient with adenosine deaminase deficiency

artículo científico publicado en 1980

Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis

artículo científico publicado en 2000

Analysis of APRT mutations by reverse-transcription PCR

artículo científico publicado en 1994

Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87 ⬇️

artículo científico publicado el 1 de junio de 1993

Analysis of in vivo somatic mutations at the APRT locus

scientific article published on 01 January 1994

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity

artículo científico publicado en 2005

Bladder outlet obstruction in male cystinuria mice

artículo científico publicado en 2009

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.

artículo científico publicado en 1998

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.

artículo científico

Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases

artículo científico publicado en 2015

Cystinuria: genetic aspects, mouse models, and a new approach to therapy

artículo científico publicado en 2018

Deoxyadenosine metabolism in the erythrocytes of children with severe, combined immunodeficiency

artículo científico publicado en 1981

Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria

artículo científico publicado en 2018

Expression of FACIT collagens XII and XIV during bleomycin-induced pulmonary fibrosis in mice

artículo científico publicado en 2003

Expression profiling of crystal-induced injury in human kidney epithelial cells

artículo científico publicado en 2005

GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency

scientific article published on 01 March 1982

Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis

artículo científico publicado en 2002

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

scientific journal article

High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

artículo científico publicado en 1997

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

artículo científico publicado en 1996

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis

scientific article published on 01 July 1994

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency

artículo científico publicado en 1990

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

artículo científico publicado en 1991

Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family

artículo científico publicado en 1990

Identification of polymorphic markers flanking the human APRT gene

artículo científico publicado en 1994

Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease

artículo científico publicado en 2003

Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells

scientific article published on 01 January 2002

Inheritance of adenine phosphoribosyltransferase (APRT) deficiency

artículo científico publicado en 1980

Loss of heterozygosity analysis in a human fibrosarcoma cell line

artículo científico publicado en 1997

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

artículo científico publicado en 1994

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

artículo científico publicado en 1999

Molecular characterization of a novel mutation in APRT heterozygotes

scientific article published on 01 January 1994

Mutational basis of adenine phosphoribosyltransferase deficiency

artículo científico publicado en 1991

Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model

artículo científico publicado en 2014

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency

scientific article published on 01 January 1994

Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model

artículo científico publicado en 1999

Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase

artículo científico publicado en 1991

Preparing DNA from Mammalian sources for genotyping

artículo científico publicado en 2007

Preparing DNA from blood for genotyping

artículo científico publicado en 2007

Preparing DNA from cell pellets for genotyping

artículo científico publicado en 2007

Preparing DNA from saliva for genotyping

artículo científico publicado en 2007

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

artículo científico publicado en 1984

Role of Molecular Recognition in l-Cystine Crystal Growth Inhibition

artículo científico publicado en 2017

Sequential analysis of kidney stone formation in the Aprt knockout mouse

artículo científico publicado en 2001

Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency

artículo científico publicado en 1980

l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria.

artículo científico publicado en 2016

α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria

artículo científico publicado en 2017

Lista de obras de Amrik Sahota

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus ⬇️

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney

2302 CYSTINE ANALOGS AS POTENTIAL THERAPEUTIC AGENTS FOR CYSTINURIA

A Rapid Screening Method for Inborn Errors of Purine and Pyrimidine Metabolism Using Isotachophoresis ⬇️

A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

Adenosine and deoxyadenosine metabolism in the erythrocytes of a patient with adenosine deaminase deficiency

Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis

Analysis of APRT mutations by reverse-transcription PCR

Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87 ⬇️

Analysis of in vivo somatic mutations at the APRT locus

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity

Bladder outlet obstruction in male cystinuria mice

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.

Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases

Cystinuria: genetic aspects, mouse models, and a new approach to therapy

Deoxyadenosine metabolism in the erythrocytes of children with severe, combined immunodeficiency

Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria

Expression of FACIT collagens XII and XIV during bleomycin-induced pulmonary fibrosis in mice

Expression profiling of crystal-induced injury in human kidney epithelial cells

GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency

Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family

Identification of polymorphic markers flanking the human APRT gene

Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease

Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells

Inheritance of adenine phosphoribosyltransferase (APRT) deficiency

Loss of heterozygosity analysis in a human fibrosarcoma cell line

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

Molecular characterization of a novel mutation in APRT heterozygotes

Mutational basis of adenine phosphoribosyltransferase deficiency

Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency

Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model

Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase

Preparing DNA from Mammalian sources for genotyping

Preparing DNA from blood for genotyping

Preparing DNA from cell pellets for genotyping

Preparing DNA from saliva for genotyping

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

Role of Molecular Recognition in l-Cystine Crystal Growth Inhibition

Sequential analysis of kidney stone formation in the Aprt knockout mouse

Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency

l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria.

α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria