SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
about
Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosisOsteopetrosis and its relevance for the discovery of new functions associated with the skeletonHOXA genes cluster: clinical implications of the smallest deletion.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.SNX16 negatively regulates the migration and tumorigenesis of MCF-7 cellsAs little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and ResorptionRegulation of lysosome biogenesis and functions in osteoclasts.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.Downregulation of sorting nexin 10 is associated with overexpression of miR-30d during liver cancer progression in rats.Snx10: a newly identified locus associated with human osteopetrosisA Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis.Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.Genetics of Osteopetrosis.Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
P2860
Q27695608-75316831-901E-4293-94C7-9732582DAEC2Q28085259-A3FDCCDB-9D20-48F9-A6CC-4BB645A17D77Q30414347-222D60CC-6225-469A-A653-912889590090Q33774319-BB84027C-64D7-4CF3-91BA-9D0906FE2328Q34478269-BA348A51-5D96-4A8E-BC81-948923EADBB4Q34504836-C336A0DD-5DC3-4647-BC00-75F8E1B82B5BQ34643815-4E2FDA99-4EC5-48BD-A41B-2B87FE23AD77Q35219939-5BCE0EE3-417B-42A9-88AA-1BD112AFE385Q35636047-3CE9C158-9C2C-4F86-A09C-B3F4FDB63D25Q37505505-2ECA2CF5-BCC3-44DE-B158-1CD6924E961EQ38123371-6F2FD83B-4CCA-4FA1-B266-384F5B838C41Q38771502-1BA3F2C3-E3F1-4553-B405-771CCA300F9AQ38851888-A464F80A-D099-42ED-87D9-7C5176E96E6EQ41875402-E97CDCFB-0761-45F3-AF45-48001CCE851DQ47154157-8CD0FEFA-DE03-4ABB-8081-248CF13CAF3EQ47701991-30D6D9B8-9B21-4E01-9C20-AB0E296C0F0DQ48308311-2B3B464A-F9A7-4614-B6B9-12B3562DA9D9Q50041731-3E5D237A-D1AB-40EA-9954-68B66FF8CA66Q51610280-CB136198-FB11-45BD-BE0A-7FEF8756A357Q53226516-C6B54F31-F3B3-4A62-A89A-BE7F36B7A85B
P2860
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
SNX10 mutations define a subgr ...... th variable clinical severity.
@ast
SNX10 mutations define a subgr ...... th variable clinical severity.
@en
SNX10 mutations define a subgr ...... th variable clinical severity.
@nl
type
label
SNX10 mutations define a subgr ...... th variable clinical severity.
@ast
SNX10 mutations define a subgr ...... th variable clinical severity.
@en
SNX10 mutations define a subgr ...... th variable clinical severity.
@nl
prefLabel
SNX10 mutations define a subgr ...... th variable clinical severity.
@ast
SNX10 mutations define a subgr ...... th variable clinical severity.
@en
SNX10 mutations define a subgr ...... th variable clinical severity.
@nl
P2093
P2860
P356
P1476
SNX10 mutations define a subgr ...... th variable clinical severity.
@en
P2093
Alessandra Pangrazio
Anders Fasth
Andrea Sbardellati
Anna Villa
Ansgar Schulz
Ashok Vellodi
Canan Albayrak
Claire Schlack
Cristina Sobacchi
Davut Albayrak
P2860
P304
P356
10.1002/JBMR.1849
P577
2013-05-01T00:00:00Z