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■ Abbreviation / Long Form : RD / restrictive dermopathy

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Total Number of Papers: 42
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Abbreviation:   RD  (>> Co-occurring Abbreviation)
Long Form:   restrictive dermopathy
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No. Year Title Co-occurring Abbreviation
2018 ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability. ER, HGPS, MAD-B
2017 Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. MADB
2016 A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. MAD
2016 Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy. ---
2016 Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings. ---
2015 DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. HGPS
2014 Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development. HGPS, LBR, PD5
2014 New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. MAD
2013 Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. ---
10  2013 Restrictive dermopathy: report of two siblings. ZMPSTE24
11  2012 A case of restrictive dermopathy with novel ZMPSTE24 gene mutation. ---
12  2012 Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. BAF, FPLD, MADA
13  2012 Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. ---
14  2012 Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. HGPS, LMNA, MAD-B
15  2011 Cell autonomous and systemic factors in progeria development. HGPS, MAD, NGPS, ZMPSTE24
16  2011 The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine. DSB, HGPS, NAC, ROS
17  2010 An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. ---
18  2010 Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. ---
19  2009 Emerin-prelamin A interplay in human fibroblasts. ---
20  2009 Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A. DSBs, HGPS, XPA
21  2009 Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants. LaA, NPCs
22  2009 Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. ---
23  2009 Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family. ---
24  2008 A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. ---
25  2008 Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. DSBs, HGPS, RNAi, XPA
26  2008 Lamin A/C, laminopathies and premature ageing. HGPS, Zmpste24
27  2008 Restrictive dermopathy: a rare laminopathy. ---
28  2008 [A-type lamins and progeroid syndromes : persistent farnesylation with dramatic effects]. HGPS
29  2006 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. HGPS
30  2006 Altered splicing in prelamin A-associated premature aging phenotypes. HGPS
31  2006 DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. ATM, FTI, HGPS
32  2006 Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors. HGPS
33  2006 Prelamin A farnesylation and progeroid syndromes. FTI, HGPS
34  2005 Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. FTI, HGPS
35  2005 Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. ---
36  2005 Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. ---
37  2004 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. ---
38  2003 Restrictive dermopathy in two sisters. ---
39  2002 Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin. FADS, IL, TNF
40  2001 Restrictive dermopathy and fetal behaviour. ---
41  2001 Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes. ---
42  1997 Restrictive dermopathy: report and review. FADS