153 related articles for article (PubMed ID: 23316006)
1. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Volodarsky M; Markus B; Cohen I; Staretz-Chacham O; Flusser H; Landau D; Shelef I; Langer Y; Birk OS
Hum Mutat; 2013 Apr; 34(4):582-6. PubMed ID: 23316006
[TBL] [Abstract][Full Text] [Related]
2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Shaheen R; Alazami AM; Alshammari MJ; Faqeih E; Alhashmi N; Mousa N; Alsinani A; Ansari S; Alzahrani F; Al-Owain M; Alzayed ZS; Alkuraya FS
J Med Genet; 2012 Oct; 49(10):630-5. PubMed ID: 23054245
[TBL] [Abstract][Full Text] [Related]
3. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
Rubinato E; Morgan A; D'Eustacchio A; Pecile V; Gortani G; Gasparini P; Faletra F
Gene; 2014 Jul; 545(2):290-2. PubMed ID: 24835313
[TBL] [Abstract][Full Text] [Related]
4. Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.
Lv F; Xu XJ; Wang JY; Liu Y; Asan ; Wang JW; Song LJ; Song YW; Jiang Y; Wang O; Xia WB; Xing XP; Li M
J Hum Genet; 2016 Jun; 61(6):539-45. PubMed ID: 26911354
[TBL] [Abstract][Full Text] [Related]
5. Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
Cabral WA; Ishikawa M; Garten M; Makareeva EN; Sargent BM; Weis M; Barnes AM; Webb EA; Shaw NJ; Ala-Kokko L; Lacbawan FL; Högler W; Leikin S; Blank PS; Zimmerberg J; Eyre DR; Yamada Y; Marini JC
PLoS Genet; 2016 Jul; 12(7):e1006156. PubMed ID: 27441836
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
[TBL] [Abstract][Full Text] [Related]
7. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
[TBL] [Abstract][Full Text] [Related]
8. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
[TBL] [Abstract][Full Text] [Related]
9. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
[TBL] [Abstract][Full Text] [Related]
10. Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.
Jovanovic M; Mitra A; Besio R; Contento BM; Wong KW; Derkyi A; To M; Forlino A; Dale RK; Marini JC
Matrix Biol; 2023 Aug; 121():127-148. PubMed ID: 37348683
[TBL] [Abstract][Full Text] [Related]
11. TRIC-B Mutations Causing Osteogenesis Imperfecta.
Ichimura A; Takeshima H
Biol Pharm Bull; 2016; 39(11):1743-1747. PubMed ID: 27803445
[TBL] [Abstract][Full Text] [Related]
12. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
Basit S; Wali A; Aziz A; Muhammad N; Jelani M; Ahmad W
Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890
[TBL] [Abstract][Full Text] [Related]
13. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT; Temtamy S; Aglan M; Valencia M; Martínez-Glez V; Ballesta-Martínez MJ; López-González V; Ashour AM; Amr K; Pulido V; Guillén-Navarro E; Lapunzina P; Caparrós-Martín JA; Ruiz-Perez VL
Hum Mutat; 2012 Oct; 33(10):1444-9. PubMed ID: 22689593
[TBL] [Abstract][Full Text] [Related]
14. Zebrafish Tric-b is required for skeletal development and bone cells differentiation.
Tonelli F; Leoni L; Daponte V; Gioia R; Cotti S; Fiedler IAK; Larianova D; Willaert A; Coucke PJ; Villani S; Busse B; Besio R; Rossi A; Witten PE; Forlino A
Front Endocrinol (Lausanne); 2023; 14():1002914. PubMed ID: 36755921
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
Webb EA; Balasubramanian M; Fratzl-Zelman N; Cabral WA; Titheradge H; Alsaedi A; Saraff V; Vogt J; Cole T; Stewart S; Crabtree NJ; Sargent BM; Gamsjaeger S; Paschalis EP; Roschger P; Klaushofer K; Shaw NJ; Marini JC; Högler W
J Clin Endocrinol Metab; 2017 Jun; 102(6):2019-2028. PubMed ID: 28323974
[TBL] [Abstract][Full Text] [Related]
16. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
Ries-Levavi L; Ish-Shalom T; Frydman M; Lev D; Cohen S; Barkai G; Goldman B; Byers P; Friedman E
Hum Mutat; 2004 Apr; 23(4):399-400. PubMed ID: 15024745
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Becker J; Semler O; Gilissen C; Li Y; Bolz HJ; Giunta C; Bergmann C; Rohrbach M; Koerber F; Zimmermann K; de Vries P; Wirth B; Schoenau E; Wollnik B; Veltman JA; Hoischen A; Netzer C
Am J Hum Genet; 2011 Mar; 88(3):362-71. PubMed ID: 21353196
[TBL] [Abstract][Full Text] [Related]
18. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
Qin W; He JX; Shi J; Xing QH; Gao JJ; He L; Qian XQ; Liu ZJ; Shu AL; He L
Yi Chuan Xue Bao; 2005 Mar; 32(3):248-52. PubMed ID: 15931785
[TBL] [Abstract][Full Text] [Related]
19. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
J Biomed Sci; 2018 Nov; 25(1):82. PubMed ID: 30447692
[TBL] [Abstract][Full Text] [Related]
20. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Nampoothiri S; Guillemyn B; Elcioglu N; Jagadeesh S; Yesodharan D; Suresh B; Turan S; Symoens S; Malfait F
Am J Med Genet A; 2019 Jun; 179(6):908-914. PubMed ID: 30896082
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
