133 related articles for article (PubMed ID: 29675035)
1. Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.
Stajkovska A; Mehandziska S; Stavrevska M; Jakovleva K; Nikchevska N; Mitrev Z; Kungulovski I; Zafiroski G; Tasic V; Kungulovski G
Front Genet; 2018; 9():113. PubMed ID: 29675035
[TBL] [Abstract][Full Text] [Related]
2. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Mumm S; Huskey M; Duan S; Wenkert D; Madson KL; Gottesman GS; Nenninger AR; Laxer RM; McAlister WH; Whyte MP
Am J Med Genet A; 2014 Sep; 164A(9):2287-93. PubMed ID: 24989131
[TBL] [Abstract][Full Text] [Related]
3. Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.
Gao X; Fang X; Huang D; Zhang S; Zeng H
Pediatr Rheumatol Online J; 2024 Mar; 22(1):37. PubMed ID: 38481224
[TBL] [Abstract][Full Text] [Related]
4. The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by
Choochuen P; Rojneuangnit K; Khetkham T; Khositseth S
Case Rep Med; 2018; 2018():6783957. PubMed ID: 30305815
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.
Li J; Shi L; Lau K; Ma Y; Jia S; Gao X
Eur J Med Genet; 2020 Jun; 63(6):103902. PubMed ID: 32278749
[TBL] [Abstract][Full Text] [Related]
6. Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis.
Zhuang L; Adler S; Aeberli D; Villiger PM; Trueb B
Swiss Med Wkly; 2017; 147():w14529. PubMed ID: 29120020
[TBL] [Abstract][Full Text] [Related]
7. A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.
Li JY; Ho FT; Lee M; Chan J; Chung BH; Tung JY; Ma AL
Am J Med Genet A; 2024 Mar; ():e63616. PubMed ID: 38551204
[TBL] [Abstract][Full Text] [Related]
8. Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a
Chen K; Zamariolli M; Soares MFF; Meloni VA; Melaragno MI
Mol Syndromol; 2022 Feb; 13(1):50-55. PubMed ID: 35221875
[TBL] [Abstract][Full Text] [Related]
9. Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.
Ma NS; Mumm S; Takahashi S; Levine MA
Curr Osteoporos Rep; 2023 Feb; 21(1):85-94. PubMed ID: 36477366
[TBL] [Abstract][Full Text] [Related]
10. Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of
Drovandi S; Lugani F; Boyer O; La Porta E; Giordano P; Hummel A; Knebelmann B; Cornet J; Baujat G; Lipska-Ziętkiewicz BS; Ghiggeri GM; Caridi G; Angeletti A
J Clin Med; 2022 Jul; 11(15):. PubMed ID: 35956038
[TBL] [Abstract][Full Text] [Related]
11. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A; Duncan EL; Leo PJ; Clark GR; Glazov EA; Addor MC; Herlin T; Kim CA; Leheup BP; McGill J; McTaggart S; Mittas S; Mitchell AL; Mortier GR; Robertson SP; Schroeder M; Terhal P; Brown MA
Am J Hum Genet; 2012 Mar; 90(3):494-501. PubMed ID: 22387013
[TBL] [Abstract][Full Text] [Related]
12. Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab.
Regev R; Sochett EB; Elia Y; Laxer RM; Noone D; Whitney-Mahoney K; Filipowski K; Shamas A; Vali R
Bone Rep; 2021 Jun; 14():100747. PubMed ID: 33506078
[TBL] [Abstract][Full Text] [Related]
13. An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.
Kisla Ekinci RM; Ozalp O; Anlas O; Atmis B; Ata A; Balci S
Int J Rheum Dis; 2023 Oct; 26(10):2064-2068. PubMed ID: 37088798
[TBL] [Abstract][Full Text] [Related]
14. Three cases of multicentric carpotarsal osteolysis syndrome: a case series.
Park PG; Kim KH; Hyun HS; Lee CH; Park JS; Kie JH; Choi YH; Moon KC; Cheong HI
BMC Med Genet; 2018 Sep; 19(1):164. PubMed ID: 30208859
[TBL] [Abstract][Full Text] [Related]
15. A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
Upadia J; Gomes A; Weiser P; Descartes M
J Pediatr Genet; 2018 Dec; 7(4):174-179. PubMed ID: 30430035
[TBL] [Abstract][Full Text] [Related]
16. Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients.
Tsunakawa Y; Hamada M; Matsunaga Y; Fuseya S; Jeon H; Wakimoto Y; Usui T; Kanai M; Mizuno S; Morito N; Takahashi S
Exp Anim; 2019 Feb; 68(1):103-111. PubMed ID: 30369533
[TBL] [Abstract][Full Text] [Related]
17. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
Dworschak GC; Draaken M; Hilger A; Born M; Reutter H; Ludwig M
Int J Mol Med; 2013 Jul; 32(1):174-8. PubMed ID: 23670161
[TBL] [Abstract][Full Text] [Related]
18. Zebrafish
Han Y; Shao W; Zhong D; Ma C; Wei X; Ahmed A; Yu T; Jing W; Jing L
Biomolecules; 2021 Mar; 11(3):. PubMed ID: 33806930
[TBL] [Abstract][Full Text] [Related]
19. The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
Mehawej C; Courcet JB; Baujat G; Mouy R; Gérard M; Landru I; Gosselin M; Koehrer P; Mousson C; Breton S; Quartier P; Le Merrer M; Faivre L; Cormier-Daire V
Am J Med Genet A; 2013 Dec; 161A(12):3023-9. PubMed ID: 23956186
[TBL] [Abstract][Full Text] [Related]
20. A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Närhi A; Fernandes A; Toiviainen-Salo S; Harris J; McInerney-Leo A; Lazarus S; Avela K; Duncan EL
Am J Med Genet A; 2021 Aug; 185(8):2477-2481. PubMed ID: 33988298
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]