[cite web | title = Entrez Gene: CLCN7 chloride channel 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1186| accessdate = ] ] PBB_Summary
section_title =
summary_text =
ee also
* Chloride channel
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Brandt S, Jentsch TJ |title=ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. |journal=FEBS Lett. |volume=377 |issue= 1 |pages= 15–20 |year= 1996 |pmid= 8543009 |doi=
*cite journal | author=Héon E, Piguet B, Munier F, "et al." |title=Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. |journal=Arch. Ophthalmol. |volume=114 |issue= 2 |pages= 193–8 |year= 1996 |pmid= 8573024 |doi=
*cite journal | author=Lennon G, Auffray C, Polymeropoulos M, Soares MB |title=The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. |journal=Genomics |volume=33 |issue= 1 |pages= 151–2 |year= 1996 |pmid= 8617505 |doi= 10.1006/geno.1996.0177
*cite journal | author=Eggermont J |title=The exon-intron architecture of human chloride channel genes is not conserved. |journal=Biochim. Biophys. Acta |volume=1397 |issue= 2 |pages= 156–60 |year= 1998 |pmid= 9565675 |doi=
*cite journal | author=White KE, Koller DL, Takacs I, "et al." |title=Locus heterogeneity of autosomal dominant osteopetrosis (ADO). |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 3 |pages= 1047–51 |year= 1999 |pmid= 10084593 |doi=
*cite journal | author=Daniels RJ, Peden JF, Lloyd C, "et al." |title=Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 339–52 |year= 2001 |pmid= 11157797 |doi=
*cite journal | author=Kornak U, Kasper D, Bösl MR, "et al." |title=Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. |journal=Cell |volume=104 |issue= 2 |pages= 205–15 |year= 2001 |pmid= 11207362 |doi=
*cite journal | author=Cleiren E, Bénichou O, Van Hul E, "et al." |title=Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. |journal=Hum. Mol. Genet. |volume=10 |issue= 25 |pages= 2861–7 |year= 2002 |pmid= 11741829 |doi=
*cite journal | author=Harada K, Toyooka S, Maitra A, "et al." |title=Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines. |journal=Oncogene |volume=21 |issue= 27 |pages= 4345–9 |year= 2002 |pmid= 12082624 |doi= 10.1038/sj.onc.1205446
*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=Campos-Xavier AB, Saraiva JM, Ribeiro LM, "et al." |title=Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. |journal=Hum. Genet. |volume=112 |issue= 2 |pages= 186–9 |year= 2003 |pmid= 12522560 |doi= 10.1007/s00439-002-0861-9
*cite journal | author=Waguespack SG, Koller DL, White KE, "et al." |title=Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. |journal=J. Bone Miner. Res. |volume=18 |issue= 8 |pages= 1513–8 |year= 2004 |pmid= 12929941 |doi=
*cite journal | author=Frattini A, Pangrazio A, Susani L, "et al." |title=Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. |journal=J. Bone Miner. Res. |volume=18 |issue= 10 |pages= 1740–7 |year= 2004 |pmid= 14584882 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Henriksen K, Gram J, Schaller S, "et al." |title=Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. |journal=Am. J. Pathol. |volume=164 |issue= 5 |pages= 1537–45 |year= 2004 |pmid= 15111300 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Köttgen M, Benzing T, Simmen T, "et al." |title=Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. |journal=EMBO J. |volume=24 |issue= 4 |pages= 705–16 |year= 2005 |pmid= 15692563 |doi= 10.1038/sj.emboj.7600566
*cite journal | author=Pettersson U, Albagha OM, Mirolo M, "et al." |title=Polymorphisms of the CLCN7 gene are associated with BMD in women. |journal=J. Bone Miner. Res. |volume=20 |issue= 11 |pages= 1960–7 |year= 2006 |pmid= 16234969 |doi= 10.1359/JBMR.050717
*cite journal | author=Kornak U, Ostertag A, Branger S, "et al." |title=Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue= 3 |pages= 995–1000 |year= 2006 |pmid= 16368748 |doi= 10.1210/jc.2005-2017
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
External links
*
PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
