Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
about
The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modificationsHuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsInvolvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansRole of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.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 skeletonDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyFifteen-year quest for microphthalmia-associated transcription factor target genesThe expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factorDifferentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biologySynaptotagmin VII regulates bone remodeling by modulating osteoclast and osteoblast secretionChloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia.Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth rootsSlc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cellsGenetic disorders of the skeleton: a developmental approachOsteoclasts and odontoclasts: signaling pathways to development and disease.Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.An optical assay of the transport activity of ClC-7.OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling.Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axDegradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes.Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest.Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts.Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.Towards a better understanding and new therapeutics of osteopetrosis.Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.Regulation of lysosome biogenesis and functions in osteoclasts.Cell biology and physiology of CLC chloride channels and transporters.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Emerging therapeutic targets for osteoporosis treatment.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Ion transport in pigmentation.
P2860
Q24299848-DD8D6975-92FC-4C68-983B-9414439665BDQ24310432-97FEE1B6-145E-480C-BB60-FE09F32D6254Q24673342-0B7CA679-ADA5-4D39-AAC0-458226AEB1D6Q27320758-75EDD7F5-325F-4EE8-9B7D-33353F1CCF49Q27695608-10B5C00D-6588-481A-8F8D-93E8845409A8Q28085259-9BF88ED9-AF53-4AC0-9E10-A3F8CED84F8EQ28086820-92A41737-2763-458D-B5D5-A530E358D5F0Q28267024-B4001AC1-A378-4F8F-96C6-6DB12A90C8F4Q28274046-B1E56153-8E0C-4335-B260-15578D659645Q28303937-682C4940-3781-424A-9739-8FE14F824223Q28512093-71823D0F-EBC1-4B8E-9F91-36C69786921CQ33360624-715ED80B-FC25-4A5A-A577-FFB227234254Q33413415-073FB444-B16A-4735-9AD4-4B1286E3AE4EQ33791978-9FA7FB4C-3D15-4CD7-9F1E-E80024E434FCQ33901756-B9CDE656-D97F-49AE-B3E5-FE23E203A624Q33906292-AA7D2425-F7FD-454A-AF56-DA29980158F5Q34127948-2EF1A7A2-5E68-4A97-B562-192C36CAB435Q34316363-51C46931-CE0F-42DA-9272-F343FAA96B20Q34326178-241498B6-B074-43ED-A484-388574923F42Q34580197-5BD826B9-FBB5-44D1-8A95-2373F64095CAQ34764254-C2A95463-0496-439F-8F04-D4D9178F37CDQ34774474-DB78F029-8216-4941-824F-5776D7220D5DQ34977292-C0A1B926-5ADC-42B0-B130-D3D31A7FC497Q35641443-4BDFA1C8-8535-45D9-A904-CDAEFD4C0F77Q35755147-38D2404C-DE89-4916-8E45-6FBEA2D214C8Q35870519-855975D8-D341-4551-A4A8-9B23B89FB415Q36304124-75CFAEB8-79B6-49C0-B42A-DD19F4CAD9CBQ36578142-A98DB8F1-067D-403A-BEC3-79D74DCDD7A5Q36832193-E58A466A-5D1D-493F-8C5B-899F3BE9B3B6Q36927212-839DB1A1-EE4A-4BE6-A383-C2DBF1E19C4AQ37074250-ED53512B-F9FF-44C8-A65A-AC5D913D29B0Q37283089-1398D0F3-5E05-4563-AB14-8CA2BC690C7FQ37438527-66ACD3A0-1D92-480A-BA0E-28F091236C9EQ37467923-168DAD17-69C4-485C-9409-986390F044F5Q37505505-CB838ED5-DBFF-428F-9DE0-081B7F4EC842Q38110745-F0266302-3DFE-4088-A839-D16FEF5D554BQ38123371-90A3C47A-138C-4454-9939-0F8D741DB323Q38207147-7A8D1760-68C2-4446-BAF2-0552D2472983Q38221767-708E8712-0D72-4E23-8094-A423287CF6DDQ38230708-F4E4174A-EEC7-435F-8A3D-E2958DA276C7
P2860
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
description
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2003
@ast
im April 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/04/01)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/04/01)
@nl
наукова стаття, опублікована у квітні 2003
@uk
مقالة علمية (نشرت في أبريل 2003)
@ar
name
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@ast
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@en
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@nl
type
label
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@ast
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@en
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@nl
prefLabel
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@ast
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@en
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@nl
P2093
P356
P1433
P1476
Grey-lethal mutation induces s ...... teopetrosis in mouse and human
@en
P2093
Annalisa Frattini
Jean Vacher
Mathieu Ferron
Monica Pata
Nader Chalhoub
Nadia Benachenhou
Venkatesh Rajapurohitam
P2888
P304
P356
10.1038/NM842
P407
P50
P577
2003-04-01T00:00:00Z