(Q42598677)

3 November 2017

title

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease (English)

1 reference

3 November 2017

1 reference

https://api.crossref.org/works/10.1007/S00467-003-1141-1

30 December 2023

4

Heike Olbrich

1 reference

3 November 2017

6

Heymut Omran

1 reference

3 November 2017

Manfred Fliegauf

1

1 reference

3 November 2017

Christian Fröhlich

2

1 reference

3 November 2017

Judit Horvath

3

1 reference

3 November 2017

Friedhelm Hildebrandt

5

1 reference

3 November 2017

language of work or name

1 reference

6 May 2003

1 reference

full work available at URL

3 November 2017

http://deepblue.lib.umich.edu/bitstream/2027.42/42310/1/s00467-003-1141-1.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%3A12733055

http://link.springer.com/content/pdf/10.1007/s00467-003-1141-1.pdf

30 December 2023

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1141-1

http://link.springer.com/article/10.1007/s00467-003-1141-1/fulltext.html

30 December 2023

1 reference

https://api.crossref.org/works/10.1007/S00467-003-1141-1

30 December 2023

1 reference

3 November 2017

volume

18

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3 November 2017

issue

6

1 reference

3 November 2017

page(s)

498-505

1 reference

https://scigraph.springernature.com/pub.10.1007/s00467-003-1141-1

3 November 2017

exact match

0 references

cites work

The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms

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12 December 2020

Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes

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12 December 2020

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

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12 December 2020

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

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12 December 2020

The PSIPRED protein structure prediction server

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12 December 2020

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

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12 December 2020

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

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12 December 2020

Interpreting cDNA sequences: some insights from studies on translation

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12 December 2020

The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination

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12 December 2020

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

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12 December 2020

An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons

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12 December 2020

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

1 reference

12 December 2020

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis

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12 December 2020

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

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12 December 2020

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

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12 December 2020

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

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12 December 2020

Expression of primary cilia in mammalian cells

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12 December 2020

Congenital hepatic fibrosis and nephronophthisis. A family study

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12 December 2020

A catalogue of splice junction sequences

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12 December 2020

Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease

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12 December 2020

The myristoyl-electrostatic switch: a modulator of reversible protein-membrane interactions

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12 December 2020

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

1 reference

12 December 2020

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

1 reference

12 December 2020

Myristylation and palmitylation of Src family members: the fats of the matter

1 reference

12 December 2020

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

1 reference

12 December 2020

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

1 reference

12 December 2020

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

1 reference

12 December 2020

A polybasic domain or palmitoylation is required in addition to the CAAX motif to localize p21ras to the plasma membrane

1 reference

12 December 2020

New insights: nephronophthisis-medullary cystic kidney disease

1 reference

12 December 2020

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

12 December 2020

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

1 reference

12 December 2020

Hereditary renal dysplasia and blindness

1 reference

12 December 2020

Kartagener's syndrome and the syndrome of immotile cilia

1 reference

12 December 2020

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

12 December 2020

Possible locus for polycystic kidney disease on chromosome 2.

1 reference

12 December 2020

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

7

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1141-1

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

30 December 2023

34

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1141-1

30 December 2023

Identifiers

Dimensions Publication ID

0 references

1001505541

0 references

1 reference