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Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma

Journal of the American Society of Nephrology, 2001-04, Vol.12 (4), p.713-718

2001

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Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis

The Journal of clinical investigation, 2001-07, Vol.108 (1), p.107-115

2001

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Effect of Mechanical Strain on Electric Conductance of Molecular Junctions

Journal of physical chemistry. C, 2015-08, Vol.119 (33), p.19452-19457

2015

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Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines

Biochimica et biophysica acta, 2001-10, Vol.1514 (2), p.291-302

2001

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Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

Journal of the American Society of Nephrology, 2002-08, Vol.13 (8), p.2171-2177

2002

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Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

Journal of the American Society of Nephrology, 2005-08, Vol.16 (8), p.2270-2278

2005

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Chronic active Epstein-Barr virus infection successfully treated with allogeneic peripheral blood stem cell transplantation

Bone marrow transplantation (Basingstoke), 2002-03, Vol.29 (6), p.531-533

2002

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Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state

Clinical nephrology, 2004-04, Vol.61 (4), p.231

2004

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Cyclosporine C2 Monitoring for the Treatment of Frequently Relapsing Nephrotic Syndrome in Children: A Multicenter Randomized Phase II Trial

Clinical journal of the American Society of Nephrology, 2014-02, Vol.9 (2), p.271-278

2014

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Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

Nature genetics, 1999-11, Vol.23 (3), p.264-266

1999

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Human cystine/glutamate transporter: cDNA cloning and upregulation by oxidative stress in glioma cells

Biochimica et biophysica acta, 2001-06, Vol.1512 (2), p.335-344

2001

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Expression of Human Organic Anion Transporters in the Choroid Plexus and Their Interactions With Neurotransmitter Metabolites

Journal of Pharmacological Sciences, 2003, Vol.93(4), pp.430-436

2003

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Expression of a system L neutral amino acid transporter at the blood–brain barrier

Neuroreport, 2000-11, Vol.11 (16), p.3507-3511

2000

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Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis

Pflügers Archiv, 2004-07, Vol.448 (4), p.438-444

2004

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The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

Pediatric nephrology (Berlin, West), 2004-07, Vol.19 (7), p.728-733

2004

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Identification and Characterization of a Novel Member of the Heterodimeric Amino Acid Transporter Family Presumed to be Associated with an Unknown Heavy Chain

The Journal of biological chemistry, 2001-12, Vol.276 (52), p.49390-49399

2001

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Growth factor mRNA and protein in preserved human amniotic membrane

Current eye research, 2000, Vol.20 (3), p.173-177

2000

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Identification of a Novel Na+-independent Acidic Amino Acid Transporter with Structural Similarity to the Member of a Heterodimeric Amino Acid Transporter Family Associated with Unknown Heavy Chains

The Journal of biological chemistry, 2002-06, Vol.277 (23), p.21017-21026

2002

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Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transports D-serine with high affinity

Neuroscience letters, 2000-06, Vol.287 (3), p.231-235

2000

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Renovascular hypertension complicated with VATER association

Pediatric nephrology (Berlin, West), 2005-08, Vol.20 (8), p.1174-1176

2005

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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's disease

Kidney international, 1998-12, Vol.54 (6), p.1850-1856

1998

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Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

Kidney international, 2000-08, Vol.58 (2), p.520-527

2000

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Identification of Two Novel Mutations in the CLCN5 Gene in Japanese Patients With Familial Idiopathic Low Molecular Weight Proteinuria (Japanese Dent's Disease)

American journal of kidney diseases, 2001-01, Vol.37 (1), p.138-143

2001

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A familial case of multicystic dysplastic kidney

Pediatric nephrology (Berlin, West), 2005-09, Vol.20 (9), p.1245-1248

2005

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Failure of pre-diarrheal antibiotics to prevent hemolytic uremic syndrome in serologically proven Escherichia coli O157:H7 gastrointestinal infection

The Journal of pediatrics, 1999-12, Vol.135 (6), p.768-769

1999

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Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma

Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis

Effect of Mechanical Strain on Electric Conductance of Molecular Junctions

Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines

Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

Chronic active Epstein-Barr virus infection successfully treated with allogeneic peripheral blood stem cell transplantation

Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state

Cyclosporine C2 Monitoring for the Treatment of Frequently Relapsing Nephrotic Syndrome in Children: A Multicenter Randomized Phase II Trial

Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

Human cystine/glutamate transporter: cDNA cloning and upregulation by oxidative stress in glioma cells

Expression of Human Organic Anion Transporters in the Choroid Plexus and Their Interactions With Neurotransmitter Metabolites

Expression of a system L neutral amino acid transporter at the blood–brain barrier

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

Identification and Characterization of a Novel Member of the Heterodimeric Amino Acid Transporter Family Presumed to be Associated with an Unknown Heavy Chain

Growth factor mRNA and protein in preserved human amniotic membrane

Identification of a Novel Na+-independent Acidic Amino Acid Transporter with Structural Similarity to the Member of a Heterodimeric Amino Acid Transporter Family Associated with Unknown Heavy Chains

Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transports D-serine with high affinity

Renovascular hypertension complicated with VATER association

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's disease

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

Identification of Two Novel Mutations in the CLCN5 Gene in Japanese Patients With Familial Idiopathic Low Molecular Weight Proteinuria (Japanese Dent's Disease)

A familial case of multicystic dysplastic kidney

Failure of pre-diarrheal antibiotics to prevent hemolytic uremic syndrome in serologically proven Escherichia coli O157:H7 gastrointestinal infection

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