genetic enzymes defects, enzyme diseases
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Disease group (molecular)
Articles
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enzymatic diseases
12 February 2006 -
ciliopathies
25 October 2006cilia-related diseases
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telomeric diseases
16 February 2006telomere diseases
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WT1-associated diseases
11 May 2004WT1 mutations-associated disorders, WT1-related diseases, WT1-related disorders
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phosphoinositide signaling diseases
15 June 2004phosphoinositide signaling disorders
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keratinopathies
18 March 2004See also
keratinopathic ichtyoses
References
Keratin gene mutations in disorders of human skin and its appendages. Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. PMID: #21176769#
Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004 Nov;204(4):355-66. PMID: #15495218#
Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet. 2004 Nov 15;131C(1):4-11. PMID: #15452838#
Whittock NV, Ashton GH, (...) -
hyper-IgE recurrent infection syndromes
30 June 2011HIES, hyper-IgE recurrent infection syndrome
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sarcomyopathies
18 March 2004sarcomeropathies, sarcomeric protein diseases, inherited disorders of sarcomeric proteins, inherited disorders of contractile proteins in skeletal and cardiac muscle
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myofibrillar myopathies
7 March 2004The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...) -
surplus protein myopathies
19 March 2004Sporadic and familial neuromuscular conditions marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy.
desminopathies: mutations in the desmin and alpha-B crystallin genes
actinopathy: mutations in the actin gene
surplus sarcoplasmic and/or intranuclear nemaline bodies mutation in tropomyosin-3 mutation in actin mutation in nebulin
References
Goebel HH, Warlo IA. Surplus protein (...)