BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 27055475)

  • 1. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
    Iida A; Xing W; Docx MK; Nakashima T; Wang Z; Kimizuka M; Van Hul W; Rating D; Spranger J; Ohashi H; Miyake N; Matsumoto N; Mohan S; Nishimura G; Mortier G; Ikegawa S
    J Med Genet; 2016 Aug; 53(8):568-74. PubMed ID: 27055475
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.
    Pieridou C; Sabir A; Lancashire J; Liang Y; McMillan K; Shaw N; Uday S
    Front Endocrinol (Lausanne); 2023; 14():1258340. PubMed ID: 37920250
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.
    Guo L; Girisha KM; Iida A; Hebbar M; Shukla A; Shah H; Nishimura G; Matsumoto N; Nismath S; Miyake N; Ikegawa S
    J Hum Genet; 2017 Mar; 62(3):437-441. PubMed ID: 27829680
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
    Miryounesi M; Nikfar A; Changi-Ashtiani M; Shahrooei M; Dinmohammadi H; Shahani T; Zarvandi S; Bahrami T; Momenilandi M; Rokni-Zadeh H
    Ann Hum Genet; 2020 Jan; 84(1):102-106. PubMed ID: 31571209
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
    Howaldt A; Hennig AF; Rolvien T; Rössler U; Stelzer N; Knaus A; Böttger S; Zustin J; Geißler S; Oheim R; Amling M; Howaldt HP; Kornak U
    J Bone Miner Res; 2020 Jul; 35(7):1322-1332. PubMed ID: 32119750
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures.
    van Velsen EFS; Demirdas S; Hanff D; Zillikens MC
    JBMR Plus; 2023 Aug; 7(8):e10755. PubMed ID: 37614307
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
    Chorin O; Chowers G; Agbariah R; Karklinsky S; Barel O; Bar-Joseph I; Reznik-Wolf H; Shamash J; Pode-Shakked B; Jacobson JM; Huna-Baron R; Redler Y; Tirosh I; Vivante A; Raas-Rothschild A
    Eur J Med Genet; 2022 Jan; 65(1):104383. PubMed ID: 34798323
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
    Turan S
    Bone; 2023 Feb; 167():116615. PubMed ID: 36402365
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Leucine-rich repeat kinase-1 regulates osteoclast function by modulating RAC1/Cdc42 Small GTPase phosphorylation and activation.
    Zeng C; Goodluck H; Qin X; Liu B; Mohan S; Xing W
    Am J Physiol Endocrinol Metab; 2016 Oct; 311(4):E772-E780. PubMed ID: 27600824
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis.
    Xing W; Liu J; Cheng S; Vogel P; Mohan S; Brommage R
    J Bone Miner Res; 2013 Sep; 28(9):1962-74. PubMed ID: 23526378
    [TBL] [Abstract][Full Text] [Related]  

  • 11. LRRK1 regulation of actin assembly in osteoclasts involves serine 5 phosphorylation of L-plastin.
    Si M; Goodluck H; Zeng C; Pan S; Todd EM; Morley SC; Qin X; Mohan S; Xing W
    J Cell Biochem; 2018 Dec; 119(12):10351-10357. PubMed ID: 30136304
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
    Turan S; Mumm S; Alavanda C; Kaygusuz BS; Gurpinar Tosun B; Arman A; Huskey M; Guran T; Duan S; Bereket A; Whyte MP
    JBMR Plus; 2022 Aug; 6(8):e10663. PubMed ID: 35991533
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse.
    Seifert MF; Marks SC
    Am J Anat; 1985 Feb; 172(2):141-53. PubMed ID: 3976544
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
    Sharony R; Borochowitz Z; Cohen L; Shtorch-Asor A; Rosenfeld R; Modai S; Reinstein E
    Clin Genet; 2017 Dec; 92(6):645-648. PubMed ID: 28342220
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
    Campeau PM; Lu JT; Sule G; Jiang MM; Bae Y; Madan S; Högler W; Shaw NJ; Mumm S; Gibbs RA; Whyte MP; Lee BH
    Hum Mol Genet; 2012 Nov; 21(22):4904-9. PubMed ID: 22875837
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.
    Howaldt A; Nampoothiri S; Quell LM; Ozden A; Fischer-Zirnsak B; Collet C; de Vernejoul MC; Doneray H; Kayserili H; Kornak U
    Bone; 2019 Mar; 120():495-503. PubMed ID: 30537558
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An extremely rare case: osteosclerotic metaphyseal dysplasia.
    Kasapkara CS; Küçükçongar A; Boyunağa O; Bedir T; Oncü F; Hasanoğlu A; Tümer L
    Genet Couns; 2013; 24(1):69-74. PubMed ID: 23610867
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Osteosclerotic metaphyseal dysplasia.
    Nishimura G; Kozlowski K
    Pediatr Radiol; 1993; 23(6):450-2. PubMed ID: 8255649
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
    Xue JY; Simsek-Kiper PO; Utine GE; Yan L; Wang Z; Taskiran EZ; Karaosmanoglu B; Imren G; Gocmen R; Nishimura G; Matsumoto N; Miyake N; Ikegawa S; Guo L
    J Hum Genet; 2021 Jun; 66(6):607-611. PubMed ID: 33402699
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.
    Uludağ Alkaya D; Akpınar E; Bilguvar K; Tüysüz B
    Am J Med Genet A; 2021 Jul; 185(7):2271-2277. PubMed ID: 33837634
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.