Gene: AXDND1

Alternate names for this Gene: C1orf125

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: axonemal dynein light chain domain containing 1

Type of Gene: protein-coding

Gene: NPHS2

Alternate names for this Gene: PDCN|SRN1

Gene Summary: This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: NPHS2 stomatin family member, podocin

Type of Gene: protein-coding

rs1214047676 in AXDND1;NPHS2 gene and Idiopathic Nephrotic Syndrome PMID 26420286 2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases.

PMID 22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

PMID 24072147 2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

PMID 23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 23800802 2013 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 10742096 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PMID 24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PMID 12464671 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

PMID 22578956 2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

PMID 23913389 2013 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

PMID 23645318 2013 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

PMID 11805166 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

PMID 18216321 2008 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

PMID 21171529 2010 Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.

PMID 24742477 2014 Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

PMID 20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

PMID 23595123 2013 A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

PMID 21415313 2011 Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

rs1553312833 in AXDND1;NPHS2 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PMID 23645318 2013 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 11805166 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

PMID 23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PMID 22578956 2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

PMID 21171529 2010 Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.

PMID 18216321 2008 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PMID 14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PMID 23595123 2013 A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PMID 22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.