364 related articles for article (PubMed ID: 12768443)
1. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
Cao H; Hegele RA
J Hum Genet; 2003; 48(5):271-274. PubMed ID: 12768443
[TBL] [Abstract][Full Text] [Related]
2. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D; Ozel AB; Campbell SE; Saadi A; Arlt MF; McSweeney KM; Plaiasu V; Szakszon K; Szőllős A; Rusu C; Rojas AJ; Lopez-Valdez J; Thiele H; Nürnberg P; Nickerson DA; Bamshad MJ; Li JZ; Kubisch C; Glover TW; Gordon LB
Hum Genet; 2018 Dec; 137(11-12):921-939. PubMed ID: 30450527
[TBL] [Abstract][Full Text] [Related]
3. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?
Arboleda G; Ramírez N; Arboleda H
Exp Gerontol; 2007 Oct; 42(10):939-43. PubMed ID: 17728088
[TBL] [Abstract][Full Text] [Related]
4. Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Wang J; Yu Q; Tang X; Gordon LB; Chen J; Jiang B; Huang G; Fu H; Qian J; Liu Z; Mao J
Pediatr Res; 2024 Apr; 95(5):1356-1362. PubMed ID: 38191824
[TBL] [Abstract][Full Text] [Related]
5. Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
Mazereeuw-Hautier J; Wilson LC; Mohammed S; Smallwood D; Shackleton S; Atherton DJ; Harper JI
Br J Dermatol; 2007 Jun; 156(6):1308-14. PubMed ID: 17459035
[TBL] [Abstract][Full Text] [Related]
6. An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y; De Sandre-Giovannoli A; Vera EV; Navarro CL; Elalaoui SC; Tajir M; Lévy N; Sefiani A
Am J Med Genet A; 2012 Nov; 158A(11):2881-7. PubMed ID: 22991222
[TBL] [Abstract][Full Text] [Related]
7. Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients.
Morales LC; Arboleda G; Rodríguez Y; Forero DA; Ramírez N; Yunis JJ; Arboleda H
Am J Med Genet A; 2009 Dec; 149A(12):2695-9. PubMed ID: 19938095
[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. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Moulson CL; Fong LG; Gardner JM; Farber EA; Go G; Passariello A; Grange DK; Young SG; Miner JH
Hum Mutat; 2007 Sep; 28(9):882-9. PubMed ID: 17469202
[TBL] [Abstract][Full Text] [Related]
10. p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
Guo H; Luo N; Hao F; Bai Y
Gene; 2014 Aug; 546(1):35-9. PubMed ID: 24861648
[TBL] [Abstract][Full Text] [Related]
11. Telomere length in Hutchinson-Gilford progeria syndrome.
Decker ML; Chavez E; Vulto I; Lansdorp PM
Mech Ageing Dev; 2009 Jun; 130(6):377-83. PubMed ID: 19428457
[TBL] [Abstract][Full Text] [Related]
12. A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I; Patni N; Ueda M; Sorkina E; Valerio CM; Cochran E; Brown RJ; Peeden J; Tikhonovich Y; Tiulpakov A; Stender SRS; Klouda E; Tayeh MK; Innis JW; Meyer A; Lal P; Godoy-Matos AF; Teles MG; Adams-Huet B; Rader DJ; Hegele RA; Oral EA; Garg A
J Clin Endocrinol Metab; 2018 Mar; 103(3):1005-1014. PubMed ID: 29267953
[TBL] [Abstract][Full Text] [Related]
13. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
Kane MS; Lindsay ME; Judge DP; Barrowman J; Ap Rhys C; Simonson L; Dietz HC; Michaelis S
Am J Med Genet A; 2013 Jul; 161A(7):1599-611. PubMed ID: 23666920
[TBL] [Abstract][Full Text] [Related]
14. Cellular stress and AMPK activation as a common mechanism of action linking the effects of metformin and diverse compounds that alleviate accelerated aging defects in Hutchinson-Gilford progeria syndrome.
Finley J
Med Hypotheses; 2018 Sep; 118():151-162. PubMed ID: 30037605
[TBL] [Abstract][Full Text] [Related]
15. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
Madej-Pilarczyk A; Rosińska-Borkowska D; Rekawek J; Marchel M; Szaluś E; Jabłońska S; Hausmanowa-Petrusewicz I
Am J Med Genet A; 2009 Nov; 149A(11):2387-92. PubMed ID: 19842191
[TBL] [Abstract][Full Text] [Related]
16. Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).
Plasilova M; Chattopadhyay C; Ghosh A; Wenzel F; Demougin P; Noppen C; Schaub N; Szinnai G; Terracciano L; Heinimann K
PLoS One; 2011; 6(6):e21433. PubMed ID: 21738662
[TBL] [Abstract][Full Text] [Related]
17. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Denecke J; Brune T; Feldhaus T; Robenek H; Kranz C; Auchus RJ; Agarwal AK; Marquardt T
Hum Mutat; 2006 Jun; 27(6):524-31. PubMed ID: 16671095
[TBL] [Abstract][Full Text] [Related]
18. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance.
Liang L; Zhang H; Gu X
Acta Paediatr; 2009 Aug; 98(8):1365-8. PubMed ID: 19432833
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.
Paradisi M; McClintock D; Boguslavsky RL; Pedicelli C; Worman HJ; Djabali K
BMC Cell Biol; 2005 Jun; 6():27. PubMed ID: 15982412
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
