(Q35110850)

6 August 2017

1 reference

title

The genetic basis of FSGS and steroid-resistant nephrosis (English)

1 reference

6 August 2017

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

25 December 2023

author name string

Martin R. Pollak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12704574

25 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12704574

25 December 2023

publication date

1 March 2003

1 reference

full work available at URL

6 August 2017

http://medlib.yu.ac.kr/eur_j_oph/sem_nephrol/sem_n_pdf/SemNep_23_2_141.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12704574

https://api.elsevier.com/content/article/PII:S0270929503700163?httpAccept=text/xml

25 December 2023

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

https://api.elsevier.com/content/article/PII:S0270929503700163?httpAccept=text/plain

25 December 2023

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

25 December 2023

published in

Seminars in Nephrology

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6 August 2017

volume

23

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6 August 2017

issue

2

1 reference

6 August 2017

page(s)

141-146

1 reference

Clinical and pathologic features of familial focal segmental glomerulosclerosis

6 August 2017

cites work

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The familial nephrotic syndrome. II. A clinicopathological study

25 December 2023

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Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature

25 December 2023

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Congenital nephrotic syndrome

25 December 2023

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https://api.crossref.org/works/10.1053/SNEP.2003.50014

Podocyte proteins in Galloway-Mowat syndrome

25 December 2023

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1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

25 December 2023

12

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

25 December 2023

13

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin localizes to the slit pore of the glomerular epithelial cell

25 December 2023

14

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney

25 December 2023

15

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

25 December 2023

16

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

25 December 2023

17

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Interaction with podocin facilitates nephrin signaling

25 December 2023

18

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm

25 December 2023

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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

25 December 2023

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

25 December 2023

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

25 December 2023

22

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

25 December 2023

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Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

25 December 2023

24

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites

25 December 2023

25

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

25 December 2023

26

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin TRAP Mice Lack Slit Diaphragms and Show Fibrotic Glomeruli and Cystic Tubular Lesions

25 December 2023

27

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

25 December 2023

28

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Determinants of vascular permeability in the kidney glomerulus.

25 December 2023

29

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

25 December 2023

30

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

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

25 December 2023

31

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

A stomatin-like protein necessary for mechanosensation in C. elegans

25 December 2023

32

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Podocin localizes in the kidney to the slit diaphragm area

25 December 2023

33

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Interaction of endogenous nephrin and CD2-associated protein in mouse epithelial M-1 cell line

25 December 2023

34

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family

25 December 2023

37

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese

25 December 2023

38

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Spectrum of disease in familial focal and segmental glomerulosclerosis

25 December 2023

41

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13

25 December 2023

42

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.

25 December 2023

43

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

25 December 2023

44

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Affinity of alpha-actinin for actin determines the structure and mechanical properties of actin filament gels

25 December 2023

45

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

25 December 2023

46

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

25 December 2023

47

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

25 December 2023

48

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

25 December 2023

49

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Clinical spectrum of Denys-Drash and Frasier syndrome

25 December 2023

50

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

25 December 2023

51

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

25 December 2023

52

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

25 December 2023

55

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations

25 December 2023

56

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

25 December 2023

58

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

25 December 2023

59

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

25 December 2023

60

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes

25 December 2023

61

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

25 December 2023

62

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

25 December 2023

63

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

25 December 2023

64

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology

25 December 2023

65

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin in experimental glomerular disease.

25 December 2023

66

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Podocyte-associated molecules in puromycin aminonucleoside nephrosis of the rat.

25 December 2023

67

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin expression in the post-natal developing kidney in normotensive and hypertensive rats.

25 December 2023

69

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Irbesartan normalises the deficiency in glomerular nephrin expression in a model of diabetes and hypertension

25 December 2023

70

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome

25 December 2023

72

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Parvovirus B19 DNA in kidney tissue of patients with focal segmental glomerulosclerosis

25 December 2023

73

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

Association of parvovirus B19 infection with idiopathic collapsing glomerulopathy

25 December 2023

74

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

HIV-associated nephropathy

25 December 2023

75

1 reference

https://api.crossref.org/works/10.1053/SNEP.2003.50014

25 December 2023

Identifiers

1 reference

6 August 2017

1 reference