BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

353 related articles for article (PubMed ID: 30867839)

  • 21. Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7.
    Wen X; Lacruz RS; Paine ML
    Anat Rec (Hoboken); 2015 Aug; 298(8):1502-8. PubMed ID: 25663454
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The Cl- transporter ClC-7 is essential for phagocytic clearance by microglia.
    Iyer H; Talbot WS
    J Cell Sci; 2024 Feb; 137(4):. PubMed ID: 38294065
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A Case of Autosomal Dominant Osteopetrosis Type 2 with a
    Kang S; Kang YK; Lee JA; Kim DH; Lim JS
    J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):439-443. PubMed ID: 30759959
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
    Di Zanni E; Palagano E; Lagostena L; Strina D; Rehman A; Abinun M; De Somer L; Martire B; Brown J; Kariminejad A; Balasubramaniam S; Baynam G; Gurrieri F; Pisanti MA; De Maggio I; Abboud MR; Chiesa R; Burren CP; Villa A; Sobacchi C; Picollo A
    J Bone Miner Res; 2021 Mar; 36(3):531-545. PubMed ID: 33125761
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.
    Coudert AE; Del Fattore A; Baulard C; Olaso R; Schiltz C; Collet C; Teti A; de Vernejoul MC
    Lab Invest; 2014 Mar; 94(3):275-85. PubMed ID: 24336069
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
    Bonapace G; Moricca MT; Talarico V; Graziano F; Pensabene L; Miniero R
    Ital J Pediatr; 2014 Nov; 40():90. PubMed ID: 25410126
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
    Hofstaetter JG; Atkins GJ; Kato H; Kogawa M; Blouin S; Misof BM; Roschger P; Evdokiou A; Yang D; Solomon LB; Findlay DM; Ito N
    Calcif Tissue Int; 2022 Oct; 111(4):430-444. PubMed ID: 35618777
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
    Phadke SR; Fischer B; Gupta N; Ranganath P; Kabra M; Kornak U
    Indian J Med Res; 2010 Apr; 131():508-14. PubMed ID: 20424301
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
    Besbas N; Draaken M; Ludwig M; Deren O; Orhan D; Bilginer Y; Ozaltin F
    Eur J Pediatr; 2009 Dec; 168(12):1449-54. PubMed ID: 19238435
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl
    Bose S; de Heus C; Kennedy ME; Wang F; Jentsch TJ; Klumperman J; Stauber T
    Biomolecules; 2023 Dec; 13(12):. PubMed ID: 38136669
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2.
    Capulli M; Maurizi A; Ventura L; Rucci N; Teti A
    Mol Ther Nucleic Acids; 2015 Sep; 4(9):e248. PubMed ID: 26325626
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.
    Funck-Brentano T; Zillikens MC; Clunie G; Siggelkow H; Appelman-Dijkstra NM; Cohen-Solal M
    Eur J Med Genet; 2024 Jun; 69():104936. PubMed ID: 38593953
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.
    Al-Aama JY; Dabbagh AA; Edrees AY
    Clin Dysmorphol; 2012 Jan; 21(1):1-7. PubMed ID: 21946807
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
    Kornak U; Ostertag A; Branger S; Benichou O; de Vernejoul MC
    J Clin Endocrinol Metab; 2006 Mar; 91(3):995-1000. PubMed ID: 16368748
    [TBL] [Abstract][Full Text] [Related]  

  • 35.
    Sun X; Zhang R; Chen H; Du X; Chen S; Huang J; Liu M; Xu M; Luo F; Jin M; Su N; Qi H; Yang J; Tan Q; Zhang D; Ni Z; Liang S; Zhang B; Chen D; Zhang X; Luo L; Chen L; Xie Y
    Theranostics; 2020; 10(16):7111-7130. PubMed ID: 32641982
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
    Cleiren E; BĂ©nichou O; Van Hul E; Gram J; Bollerslev J; Singer FR; Beaverson K; Aledo A; Whyte MP; Yoneyama T; deVernejoul MC; Van Hul W
    Hum Mol Genet; 2001 Dec; 10(25):2861-7. PubMed ID: 11741829
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The Role of the Lysosomal Cl
    Zifarelli G
    Cells; 2022 Jan; 11(3):. PubMed ID: 35159175
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
    Piret SE; Gorvin CM; Trinh A; Taylor J; Lise S; Taylor JC; Ebeling PR; Thakker RV
    Am J Med Genet A; 2016 Nov; 170(11):2988-2992. PubMed ID: 27540713
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
    Waguespack SG; Hui SL; Dimeglio LA; Econs MJ
    J Clin Endocrinol Metab; 2007 Mar; 92(3):771-8. PubMed ID: 17164308
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
    Campos-Xavier AB; Saraiva JM; Ribeiro LM; Munnich A; Cormier-Daire V
    Hum Genet; 2003 Feb; 112(2):186-9. PubMed ID: 12522560
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.