159 related articles for article (PubMed ID: 29568001)
1. Dysosteosclerosis is also caused by TNFRSF11A mutation.
Guo L; Elcioglu NH; Karalar OK; Topkar MO; Wang Z; Sakamoto Y; Matsumoto N; Miyake N; Nishimura G; Ikegawa S
J Hum Genet; 2018 Jun; 63(6):769-774. PubMed ID: 29568001
[TBL] [Abstract][Full Text] [Related]
2. TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.
Xue JY; Wang Z; Shinagawa S; Ohashi H; Otomo N; Elcioglu NH; Nakashima T; Nishimura G; Ikegawa S; Guo L
J Bone Miner Res; 2019 Oct; 34(10):1873-1879. PubMed ID: 31163101
[TBL] [Abstract][Full Text] [Related]
3. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Xue JY; Wang Z; Smithson SF; Burren CP; Matsumoto N; Nishimura G; Ikegawa S; Guo L
J Hum Genet; 2021 Apr; 66(4):371-377. PubMed ID: 33037392
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A Null Mutation of
Kırkgöz T; Özkan B; Hazan F; Acar S; Nalbantoğlu Ö; Özkaya B; Kulalı MA; Gürsoy S; Ikegawa S; Guo L
Front Genet; 2022; 13():938814. PubMed ID: 35812760
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.
Whyte MP; Tau C; McAlister WH; Zhang X; Novack DV; Preliasco V; Santini-Araujo E; Mumm S
Bone; 2014 Nov; 68():153-61. PubMed ID: 25063546
[TBL] [Abstract][Full Text] [Related]
10. Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY; Ikegawa S; Guo L
J Bone Miner Metab; 2021 Jan; 39(1):45-53. PubMed ID: 32940787
[TBL] [Abstract][Full Text] [Related]
11. Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S
Bone; 2023 Feb; 167():116615. PubMed ID: 36402365
[TBL] [Abstract][Full Text] [Related]
12. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E; Simsek-Kiper PÖ; Koşukcu C; Taşkıran EZ; Göçmen R; Utine E; Haliloğlu G; Boduroğlu K; Alikaşifoğlu M
Am J Med Genet A; 2021 Jun; 185(6):1888-1896. PubMed ID: 33749994
[TBL] [Abstract][Full Text] [Related]
13. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; Clayton-Smith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A
Am J Hum Genet; 2008 Jul; 83(1):64-76. PubMed ID: 18606301
[TBL] [Abstract][Full Text] [Related]
14. The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
Shamriz O; Shaag A; Yaacov B; NaserEddin A; Weintraub M; Elpeleg O; Stepensky P
Clin Genet; 2017 Jul; 92(1):80-85. PubMed ID: 27187610
[TBL] [Abstract][Full Text] [Related]
15. Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
Chung PY; Beyens G; Riches PL; Van Wesenbeeck L; de Freitas F; Jennes K; Daroszewska A; Fransen E; Boonen S; Geusens P; Vanhoenacker F; Verbruggen L; Van Offel J; Goemaere S; Zmierczak HG; Westhovens R; Karperien M; Papapoulos S; Ralston SH; Devogelaer JP; Van Hul W
J Bone Miner Res; 2010 Dec; 25(12):2592-605. PubMed ID: 20564239
[TBL] [Abstract][Full Text] [Related]
16. Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.
Alonso N; Wani S; Rose L; Van't Hof RJ; Ralston SH; Albagha OME
J Bone Miner Res; 2021 Jul; 36(7):1376-1386. PubMed ID: 33724536
[TBL] [Abstract][Full Text] [Related]
17. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
[TBL] [Abstract][Full Text] [Related]
18. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
19. Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
Elahi E; Shafaghati Y; Asadi S; Absalan F; Goodarzi H; Gharaii N; Karimi-Nejad MH; Shahram F; Hughes AE
J Bone Miner Metab; 2007; 25(3):159-64. PubMed ID: 17447113
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
