BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 24753205)

  • 1. TCIRG1-associated congenital neutropenia.
    Makaryan V; Rosenthal EA; Bolyard AA; Kelley ML; Below JE; Bamshad MJ; Bofferding KM; Smith JD; Buckingham K; Boxer LA; Skokowa J; Welte K; Nickerson DA; Jarvik GP; Dale DC;
    Hum Mutat; 2014 Jul; 35(7):824-7. PubMed ID: 24753205
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
    Ajmal M; Mir A; Wahid S; Khor CC; Foo JN; Siddiqi S; Kauser M; Malik SA; Nasir M
    BMC Med Genet; 2017 Dec; 18(1):148. PubMed ID: 29237407
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
    Jodeh W; Katz AJ; Hart M; Warden SJ; Niziolek P; Alam I; Ing S; Polgreen LE; Imel EA; Econs MJ
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1726-1732. PubMed ID: 38261998
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.
    Rosenthal EA; Makaryan V; Burt AA; Crosslin DR; Kim DS; Smith JD; Nickerson DA; Reiner AP; Rich SS; Jackson RD; Ganesh SK; Polfus LM; Qi L; Dale DC; ; Jarvik GP
    Genet Epidemiol; 2016 Sep; 40(6):470-4. PubMed ID: 27229898
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis.
    Zirngibl RA; Wang A; Yao Y; Manolson MF; Krueger J; Dupuis L; Mendoza-Londono R; Voronov I
    J Cell Biochem; 2019 Oct; 120(10):17180-17193. PubMed ID: 31111556
    [TBL] [Abstract][Full Text] [Related]  

  • 6. TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.
    Koçak G; Güzel BN; Mıhçı E; Küpesiz OA; Yalçın K; Manguoğlu AE
    Gene; 2019 Jun; 702():83-88. PubMed ID: 30898715
    [TBL] [Abstract][Full Text] [Related]  

  • 7. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
    Sobacchi C; Pangrazio A; Lopez AG; Gomez DP; Caldana ME; Susani L; Vezzoni P; Villa A
    J Bone Miner Res; 2014 Jul; 29(7):1646-50. PubMed ID: 24535816
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
    Cho HK; Jeon IS
    J Korean Med Sci; 2014 Mar; 29(3):452-5. PubMed ID: 24616599
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
    Van Nieuwenhove E; Barber JS; Neumann J; Smeets E; Willemsen M; Pasciuto E; Prezzemolo T; Lagou V; Seldeslachts L; Malengier-Devlies B; Metzemaekers M; Haßdenteufel S; Kerstens A; van der Kant R; Rousseau F; Schymkowitz J; Di Marino D; Lang S; Zimmermann R; Schlenner S; Munck S; Proost P; Matthys P; Devalck C; Boeckx N; Claessens F; Wouters C; Humblet-Baron S; Meyts I; Liston A
    J Allergy Clin Immunol; 2020 Nov; 146(5):1180-1193. PubMed ID: 32325141
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
    Anderson SL; Jalas C; Fedick A; Reid KF; Carpenter TO; Chirnomas D; Treff NR; Ekstein J; Rubin BY
    Clin Genet; 2015 Jul; 88(1):74-9. PubMed ID: 24989235
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Congenital neutropenia type IV: case report].
    Peruffo MV; Nainsztein G; Salvaneschi Quiña V; Samaruga C; Cuello MF; Romano S; Caferri H
    Arch Argent Pediatr; 2022 Oct; 120(5):e213-e217. PubMed ID: 36190223
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
    Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A
    J Bone Miner Res; 2003 Oct; 18(10):1740-7. PubMed ID: 14584882
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
    Yu T; Yu Y; Wang J; Yin L; Zhou Y; Ying D; Huang R; Chen H; Wu S; Shen Y; Fu Q; Chen F
    Mol Med Rep; 2014 Apr; 9(4):1191-6. PubMed ID: 24535484
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Heterozygous variants of CLPB are a cause of severe congenital neutropenia.
    Warren JT; Cupo RR; Wattanasirakul P; Spencer DH; Locke AE; Makaryan V; Bolyard AA; Kelley ML; Kingston NL; Shorter J; Bellanné-Chantelot C; Donadieu J; Dale DC; Link DC
    Blood; 2022 Feb; 139(5):779-791. PubMed ID: 34115842
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
    Goktas S; Azizoglu ZB; Petersheim D; Erdogan M; Eke Gungor H; Bisgin A; Tuğ Bozdoğan S; Eken A; Unal E; Klein C; Patiroglu T
    J Pediatr Hematol Oncol; 2022 Jan; 44(1):e62-e67. PubMed ID: 33560082
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular screening of the neutrophil elastase gene in congenital neutropenia.
    Thomas M; Jayandharan G; Chandy M
    Indian Pediatr; 2006 Dec; 43(12):1081-4. PubMed ID: 17202606
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
    Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A
    J Bone Miner Res; 2009 Jan; 24(1):162-7. PubMed ID: 18715141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
    Ancliff PJ; Gale RE; Liesner R; Hann IM; Linch DC
    Blood; 2001 Nov; 98(9):2645-50. PubMed ID: 11675333
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
    Pangrazio A; Caldana ME; Lo Iacono N; Mantero S; Vezzoni P; Villa A; Sobacchi C
    Osteoporos Int; 2012 Nov; 23(11):2713-8. PubMed ID: 22231430
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.