Laminopathies (lamino- + -pathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the...

misdiagnosis was common. Other syndromes with similar symptoms (non-laminopathy progeroid syndromes) include: Acrogeria Berardinelli-Seip congenital...

cell death. Mutations in lamin genes can result in several genetic laminopathies, which may be life-threatening. Lamins were first identified in the...

Pelger–Huët anomaly is a blood laminopathy associated with the lamin B receptor, wherein several types of white blood cells (neutrophils and eosinophils)...

Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. In some...

lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy". PLOS ONE. 10 (4): e0121723. Bibcode:2015PLoSO..1021723F. doi:10.1371/journal...

lamin A and lamin B1) have been implicated in a variety of diseases (laminopathies) such as: Emery–Dreifuss muscular dystrophy - A muscle wasting disease...

PMC 3476705. PMID 22549407. Capell BC, Collins FS (December 2006). "Human laminopathies: nuclei gone genetically awry". Nat. Rev. Genet. 7 (12): 940–52. doi:10...

assembly cause a group of rare genetic disorders known as laminopathies. The most notable laminopathy is the family of diseases known as progeria, which causes...

research may provide insight into the causes and genetic origins of laminopathies. Laminopathies are a group of rare genetic disorders that are caused by defects...

that encode for the inner nuclear membrane proteins can cause several laminopathies.[citation needed] The nuclear envelope is punctured by around a thousand...

blakesleeanus Mandibuloacral dysplasia with type B lipodystrophy, a type of Laminopathy Carboxybiotin decarboxylase, an enzyme Acronyms Myanma Agricultural Development...

Ramaekers, FC; Bonne, G; Yaou, RB; Hutchison, CJ (2006). "Nuclear lamins: Laminopathies and their role in premature ageing". Physiological Reviews. 86 (3):...

syndrome and for the treatment of certain processing-deficient progeroid laminopathies in people one year of age and older. The most common side effects included...

(2008-10-01). "Heart-hand syndrome of Slovenian type: a new kind of laminopathy". Journal of Medical Genetics. 45 (10): 666–671. doi:10.1136/jmg.2008...

SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria". Cell Metabolism. 16 (6): 738–50. doi:10.1016/j.cmet...

repair DNA damages due to defective A-type lamin may cause aspects of laminopathy-based premature aging. Werner syndrome, also known as "adult progeria"...

3q21.3 Autosomal dominant CMT2B1 605588 LMNA 1q22 Autosomal recessive A laminopathy CMT2B2 605589 MED25 19q13.33 Autosomal dominant CMT2C 606071 TRPV4 12q24...

Hutchinson-Gilford progeria syndrome (HGPS), processing-deficient progeroid laminopathies with LMNA or ZMPSTE24 mutations Lumasiran Alnylam Pharmaceuticals primary...

Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266....

(DES) Epidermolysis bullosa simplex; keratin 5 or keratin 14 mutation Laminopathies are a family of diseases caused by mutations in nuclear lamins and include...

associated inner nuclear membrane proteins are collectively called laminopathies. Mutations in the gene EDM, encoding the INM protein emerin may be the...

LEM domain-containing protein 3, a membrane protein associated with laminopathies Leyton Midland Road railway station in the United Kingdom, station code...

PMID 33590450. Liu, Baohua; Zhou, Zhongjun (June 2008). "Lamin A/C, laminopathies and premature ageing". Histology and Histopathology. 23 (6): 747–763...

Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging". Nat. Med. 11 (7): 780–5. doi:10.1038/nm1266....

wheelchairs). It is rare, affecting 0.39 per 100,000 (1 per 250,000) people. Laminopathies Noncompaction cardiomyopathy "Emery–Dreifuss Muscular Dystrophy Clinical...

; Fong, Loren G.; Muchir, Antoine; Young, Stephen G. (July 2009). "Laminopathies and the long strange trip from basic cell biology to therapy". The Journal...

metalloproteinase STE24 is a metalloproteinase enzyme associated with laminopathies. ZMPSTE24+protein,+human at the U.S. National Library of Medicine Medical...

were affected about four times more often than males. Lipodystrophy Laminopathy List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo...

(1 July 2008). "Heart-hand syndrome of Slovenian type: a new kind of laminopathy". Journal of Medical Genetics. 45 (10): 666–671. doi:10.1136/jmg.2008...