NPHP1: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS)
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Nephrocystin-1''' is a [[protein]] that in humans is encoded by the ''NPHP1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_NPHP1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1s1n.
| PDB = {{PDB2|1s1n}}
| Name = Nephronophthisis 1 (juvenile)
| HGNCid = 7905
| Symbol = NPHP1
| AltSymbols =; JBTS4; NPH1; SLSN1
| OMIM = 607100
| ECnumber = 
| Homologene = 229
| MGIid = 1858233
| GeneAtlas_image1 = PBB_GE_NPHP1_206285_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0019904 |text = protein domain specific binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007588 |text = excretion}} {{GNF_GO|id=GO:0007632 |text = visual behavior}} {{GNF_GO|id=GO:0016337 |text = cell-cell adhesion}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4867
    | Hs_Ensembl = ENSG00000144061
    | Hs_RefseqProtein = NP_000263
    | Hs_RefseqmRNA = NM_000272
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 110237195
    | Hs_GenLoc_end = 110319883
    | Hs_Uniprot = O15259
    | Mm_EntrezGene = 53885
    | Mm_Ensembl = ENSMUSG00000027378
    | Mm_RefseqmRNA = NM_016902
    | Mm_RefseqProtein = NP_058598
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 127432173
    | Mm_GenLoc_end = 127480295
    | Mm_Uniprot = Q0VF70
  }}
}}
'''Nephronophthisis 1 (juvenile)''', also known as '''NPHP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
NPHP1 has been shown to [[Protein-protein interaction|interact]] with [[BCAR1]],<ref name=pmid10739664>{{cite journal | vauthors = Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK | title = Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | journal = Experimental Cell Research | volume = 256 | issue = 1 | pages = 168–78 | date = Apr 2000 | pmid = 10739664 | doi = 10.1006/excr.2000.4822 }}</ref><ref name=pmid11493697>{{cite journal | vauthors = Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G | title = Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 17 | pages = 9784–9 | date = Aug 2001 | pmid = 11493697 | pmc = 55530 | doi = 10.1073/pnas.171269898 }}</ref> [[PTK2B]],<ref name=pmid11493697/> [[Filamin]]<ref name=pmid12006559>{{cite journal | vauthors = Donaldson JC, Dise RS, Ritchie MD, Hanks SK | title = Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 29028–35 | date = Aug 2002 | pmid = 12006559 | doi = 10.1074/jbc.M111697200 }}</ref> and [[INVS]].<ref name=pmid12872123>{{cite journal | vauthors = Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F | title = Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | journal = Nature Genetics | volume = 34 | issue = 4 | pages = 413–20 | date = Aug 2003 | pmid = 12872123 | doi = 10.1038/ng1217 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C | title = Familial juvenile nephronophthisis | journal = Journal of Molecular Medicine | volume = 76 | issue = 5 | pages = 310–6 | date = Apr 1998 | pmid = 9587065 | doi = 10.1007/s001090050222 }}
| citations =
* {{cite journal | vauthors = Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM | title = Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus | journal = American Journal of Kidney Diseases | volume = 32 | issue = 6 | pages = 1059–62 | date = Dec 1998 | pmid = 9856524 | doi = 10.1016/S0272-6386(98)70083-6 }}
*{{cite journal | author=Konrad M, Saunier S, Calado J, ''et al.'' |title=Familial juvenile nephronophthisis. |journal=J. Mol. Med. |volume=76 |issue= 5 |pages= 310-6 |year= 1998 |pmid= 9587065 |doi= }}
* {{cite journal | vauthors = Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C | title = Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity | journal = Genomics | volume = 22 | issue = 2 | pages = 296–301 | date = Jul 1994 | pmid = 7806215 | doi = 10.1006/geno.1994.1387 }}
*{{cite journal | author=Caridi G, Murer L, Bellantuono R, ''et al.'' |title=Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. |journal=Am. J. Kidney Dis. |volume=32 |issue= 6 |pages= 1059-62 |year= 1999 |pmid= 9856524 |doi= }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Medhioub M, Cherif D, Benessy F, ''et al.'' |title=Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. |journal=Genomics |volume=22 |issue= 2 |pages= 296-301 |year= 1995 |pmid= 7806215 |doi= }}
* {{cite journal | vauthors = Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C | title = Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis | journal = Human Molecular Genetics | volume = 5 | issue = 3 | pages = 367–71 | date = Mar 1996 | pmid = 8852662 | doi = 10.1093/hmg/5.3.367 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M | title = A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | journal = Nature Genetics | volume = 17 | issue = 2 | pages = 149–53 | date = Oct 1997 | pmid = 9326933 | doi = 10.1038/ng1097-149 }}
*{{cite journal | author=Konrad M, Saunier S, Heidet L, ''et al.'' |title=Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 367-71 |year= 1997 |pmid= 8852662 |doi= }}
* {{cite journal | vauthors = Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C | title = A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis | journal = Human Molecular Genetics | volume = 6 | issue = 13 | pages = 2317–23 | date = Dec 1997 | pmid = 9361039 | doi = 10.1093/hmg/6.13.2317 }}
*{{cite journal | author=Hildebrandt F, Otto E, Rensing C, ''et al.'' |title=A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 149-53 |year= 1997 |pmid= 9326933 |doi= 10.1038/ng1097-149 }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Saunier S, Calado J, Heilig R, ''et al.'' |title=A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. |journal=Hum. Mol. Genet. |volume=6 |issue= 13 |pages= 2317-23 |year= 1998 |pmid= 9361039 |doi= }}
* {{cite journal | vauthors = Otto E, Kispert A, Lescher B, Rensing C, Hildebrandt F | title = Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans | journal = Journal of the American Society of Nephrology | volume = 11 | issue = 2 | pages = 270–82 | date = Feb 2000 | pmid = 10665934 | doi =  }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C | title = Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis | journal = American Journal of Human Genetics | volume = 66 | issue = 3 | pages = 778–89 | date = Mar 2000 | pmid = 10712196 | pmc = 1288163 | doi = 10.1086/302819 }}
*{{cite journal | author=Otto E, Kispert A, Schätzle, ''et al.'' |title=Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. |journal=J. Am. Soc. Nephrol. |volume=11 |issue= 2 |pages= 270-82 |year= 2000 |pmid= 10665934 |doi=  }}
* {{cite journal | vauthors = Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK | title = Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | journal = Experimental Cell Research | volume = 256 | issue = 1 | pages = 168–78 | date = Apr 2000 | pmid = 10739664 | doi = 10.1006/excr.2000.4822 }}
*{{cite journal | author=Saunier S, Calado J, Benessy F, ''et al.'' |title=Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. |journal=Am. J. Hum. Genet. |volume=66 |issue= 3 |pages= 778-89 |year= 2000 |pmid= 10712196 |doi= }}
* {{cite journal | vauthors = Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F | title = Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis | journal = The Journal of Pediatrics | volume = 136 | issue = 6 | pages = 828–31 | date = Jun 2000 | pmid = 10839884 | doi = 10.1067/mpd.2000.106225 }}
*{{cite journal | author=Donaldson JC, Dempsey PJ, Reddy S, ''et al.'' |title=Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. |journal=Exp. Cell Res. |volume=256 |issue= 1 |pages= 168-78 |year= 2000 |pmid= 10739664 |doi= 10.1006/excr.2000.4822 }}
* {{cite journal | vauthors = Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G | title = Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 17 | pages = 9784–9 | date = Aug 2001 | pmid = 11493697 | pmc = 55530 | doi = 10.1073/pnas.171269898 }}
*{{cite journal | author=Betz R, Rensing C, Otto E, ''et al.'' |title=Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. |journal=J. Pediatr. |volume=136 |issue= 6 |pages= 828-31 |year= 2000 |pmid= 10839884 |doi= }}
* {{cite journal | vauthors = Donaldson JC, Dise RS, Ritchie MD, Hanks SK | title = Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 29028–35 | date = Aug 2002 | pmid = 12006559 | doi = 10.1074/jbc.M111697200 }}
*{{cite journal | author=Benzing T, Gerke P, Höpker K, ''et al.'' |title=Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 17 |pages= 9784-9 |year= 2001 |pmid= 11493697 |doi= 10.1073/pnas.171269898 }}
* {{cite journal | vauthors = Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F | title = A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | journal = American Journal of Human Genetics | volume = 71 | issue = 5 | pages = 1161–7 | date = Nov 2002 | pmid = 12205563 | pmc = 385091 | doi = 10.1086/344395 }}
*{{cite journal | author=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028-35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200 }}
* {{cite journal | vauthors = Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S | title = The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin | journal = Nature Genetics | volume = 32 | issue = 2 | pages = 300–5 | date = Oct 2002 | pmid = 12244321 | doi = 10.1038/ng996 }}
*{{cite journal | author=Otto E, Hoefele J, Ruf R, ''et al.'' |title=A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. |journal=Am. J. Hum. Genet. |volume=71 |issue= 5 |pages= 1161-7 |year= 2003 |pmid= 12205563 |doi= }}
* {{cite journal | vauthors = Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H | title = Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis | journal = Nature Genetics | volume = 34 | issue = 4 | pages = 455–9 | date = Aug 2003 | pmid = 12872122 | doi = 10.1038/ng1216 }}
*{{cite journal | author=Mollet G, Salomon R, Gribouval O, ''et al.'' |title=The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. |journal=Nat. Genet. |volume=32 |issue= 2 |pages= 300-5 |year= 2002 |pmid= 12244321 |doi= 10.1038/ng996 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Olbrich H, Fliegauf M, Hoefele J, ''et al.'' |title=Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. |journal=Nat. Genet. |volume=34 |issue= 4 |pages= 455-9 |year= 2003 |pmid= 12872122 |doi= 10.1038/ng1216 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=4867}}
{{WikiDoc Sources}}
{{Ciliary proteins}}
 
 
{{gene-2-stub}}

Revision as of 13:12, 5 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[1]

Function

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[1]

Interactions

NPHP1 has been shown to interact with BCAR1,[2][3] PTK2B,[3] Filamin[4] and INVS.[5]

References

  1. ↑ 1.0 1.1 "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)".
  2. ↑ Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.
  3. ↑ 3.0 3.1 Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
  4. ↑ Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
  5. ↑ Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (Aug 2003). "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMID 12872123.

Further reading

  • Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C (Apr 1998). "Familial juvenile nephronophthisis". Journal of Molecular Medicine. 76 (5): 310–6. doi:10.1007/s001090050222. PMID 9587065.
  • Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM (Dec 1998). "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus". American Journal of Kidney Diseases. 32 (6): 1059–62. doi:10.1016/S0272-6386(98)70083-6. PMID 9856524.
  • Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C (Jul 1994). "Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity". Genomics. 22 (2): 296–301. doi:10.1006/geno.1994.1387. PMID 7806215.
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (Mar 1996). "Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis". Human Molecular Genetics. 5 (3): 367–71. doi:10.1093/hmg/5.3.367. PMID 8852662.
  • Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (Oct 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nature Genetics. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933.
  • Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C (Dec 1997). "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis". Human Molecular Genetics. 6 (13): 2317–23. doi:10.1093/hmg/6.13.2317. PMID 9361039.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Otto E, Kispert A, Lescher B, Rensing C, Hildebrandt F (Feb 2000). "Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans". Journal of the American Society of Nephrology. 11 (2): 270–82. PMID 10665934.
  • Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (Mar 2000). "Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis". American Journal of Human Genetics. 66 (3): 778–89. doi:10.1086/302819. PMC 1288163. PMID 10712196.
  • Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664.
  • Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (Jun 2000). "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis". The Journal of Pediatrics. 136 (6): 828–31. doi:10.1067/mpd.2000.106225. PMID 10839884.
  • Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
  • Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
  • Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F (Nov 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". American Journal of Human Genetics. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
  • Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S (Oct 2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nature Genetics. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321.
  • Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nature Genetics. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122.


Retrieved from "https://www.wikidoc.org/index.php?title=NPHP1&oldid=1412188"