204 related articles for article (PubMed ID: 18435794)
1. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Miyoshi Y; Akagi M; Agarwal AK; Namba N; Kato-Nishimura K; Mohri I; Yamagata M; Nakajima S; Mushiake S; Shima M; Auchus RJ; Taniike M; Garg A; Ozono K
Clin Genet; 2008 Jun; 73(6):535-44. PubMed ID: 18435794
[TBL] [Abstract][Full Text] [Related]
2. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
Agarwal AK; Fryns JP; Auchus RJ; Garg A
Hum Mol Genet; 2003 Aug; 12(16):1995-2001. PubMed ID: 12913070
[TBL] [Abstract][Full Text] [Related]
3. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R; Navarro C; Quijano-Roy S; Bertrand AT; Massart C; De Sandre-Giovannoli A; Cadiñanos J; Mamchaoui K; Butler-Browne G; Estournet B; Richard P; Barois A; Lévy N; Bonne G
Eur J Hum Genet; 2011 Jun; 19(6):647-54. PubMed ID: 21267004
[TBL] [Abstract][Full Text] [Related]
4. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Ahmad Z; Zackai E; Medne L; Garg A
Am J Med Genet A; 2010 Nov; 152A(11):2703-10. PubMed ID: 20814950
[TBL] [Abstract][Full Text] [Related]
5. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
Agarwal AK; Kazachkova I; Ten S; Garg A
J Clin Endocrinol Metab; 2008 Dec; 93(12):4617-23. PubMed ID: 18796515
[TBL] [Abstract][Full Text] [Related]
6. Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Luo DQ; Wang XZ; Meng Y; He DY; Chen YM; Ke ZY; Yan M; Huang Y; Chen DF
BMC Pediatr; 2014 Oct; 14():256. PubMed ID: 25286833
[TBL] [Abstract][Full Text] [Related]
7. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Agarwal AK; Zhou XJ; Hall RK; Nicholls K; Bankier A; Van Esch H; Fryns JP; Garg A
J Investig Med; 2006 May; 54(4):208-13. PubMed ID: 17152860
[TBL] [Abstract][Full Text] [Related]
8. The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Odinammadu KO; Shilagardi K; Tuminelli K; Judge DP; Gordon LB; Michaelis S
Nucleus; 2023 Dec; 14(1):2288476. PubMed ID: 38050983
[TBL] [Abstract][Full Text] [Related]
9. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Garg A; Cogulu O; Ozkinay F; Onay H; Agarwal AK
J Clin Endocrinol Metab; 2005 Sep; 90(9):5259-64. PubMed ID: 15998779
[TBL] [Abstract][Full Text] [Related]
10. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
Cunningham VJ; D'Apice MR; Licata N; Novelli G; Cundy T
Bone; 2010 Sep; 47(3):591-7. PubMed ID: 20550970
[TBL] [Abstract][Full Text] [Related]
11. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM; van der Crabben SN; Baldewsingh G; van Amstel HKP; van den Wijngaard A; van Ravenswaaij-Arts CMA; Zijlmans CWR
Orphanet J Rare Dis; 2019 Dec; 14(1):294. PubMed ID: 31856865
[TBL] [Abstract][Full Text] [Related]
12. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D; Dridi H; Levy J; Lambert V; Lambert M; Agha M; Adjimi F; Kohlhase J; Lipsker D; Verloes A
Am J Med Genet A; 2016 Oct; 170(10):2750-5. PubMed ID: 27410998
[TBL] [Abstract][Full Text] [Related]
13. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL; Cadiñanos J; De Sandre-Giovannoli A; Bernard R; Courrier S; Boccaccio I; Boyer A; Kleijer WJ; Wagner A; Giuliano F; Beemer FA; Freije JM; Cau P; Hennekam RC; López-Otín C; Badens C; Lévy N
Hum Mol Genet; 2005 Jun; 14(11):1503-13. PubMed ID: 15843403
[TBL] [Abstract][Full Text] [Related]
14. Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.
de Carlos F; Varela I; Germanà A; Montalbano G; Freije JM; Vega JA; López-Otin C; Cobo JM
J Anat; 2008 Nov; 213(5):509-19. PubMed ID: 19014358
[TBL] [Abstract][Full Text] [Related]
15.
Spear ED; Hsu ET; Nie L; Carpenter EP; Hrycyna CA; Michaelis S
Dis Model Mech; 2018 Jul; 11(7):. PubMed ID: 29794150
[TBL] [Abstract][Full Text] [Related]
16. Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V; D'Apice MR; Garagnani P; Columbaro M; Novelli G; Franceschi C; Lattanzi G
Ageing Res Rev; 2018 Mar; 42():1-13. PubMed ID: 29208544
[TBL] [Abstract][Full Text] [Related]
17. A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Yassaee VR; Khojaste A; Hashemi-Gorji F; Ravesh Z; Toosi P
Gene; 2016 Feb; 577(1):8-13. PubMed ID: 26602028
[TBL] [Abstract][Full Text] [Related]
18. Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the
Wu DD; Li R; Li XN; Liu QQ; Dou LH
Yi Chuan; 2022 Dec; 44(12):1167-1174. PubMed ID: 36927562
[TBL] [Abstract][Full Text] [Related]
19. LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Afonso P; Auclair M; Boccara F; Vantyghem MC; Katlama C; Capeau J; Vigouroux C; Caron-Debarle M
Atherosclerosis; 2016 Feb; 245():200-11. PubMed ID: 26724531
[TBL] [Abstract][Full Text] [Related]
20. Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.
Wang Y; Shilagardi K; Hsu T; Odinammadu KO; Maruyama T; Wu W; Lin CS; Damoci CB; Spear ED; Shin JY; Hsu W; Michaelis S; Worman HJ
Proc Natl Acad Sci U S A; 2022 Mar; 119(9):. PubMed ID: 35197292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
