Results 211 to 220 of about 129,927 (262)
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Inherited desmosomal disorders
Cell and Tissue Research, 2014Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins ...
Liat, Samuelov, Eli, Sprecher
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Inherited disorders of glycosylation
Molecular Genetics and Metabolism, 2006Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread functions of glycosylation, inherited disorders of glycosylation are multisystemic.
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Inherited Coagulation Disorders
Veterinary Clinics of North America: Small Animal Practice, 1988Inherited coagulation disorders have been diagnosed in many breeds of dogs as well as in mongrels and cats. This article presents the different coagulation factor deficiencies that are known to exist in small animals. A description is given of each coagulation factor along with the relevant clinical signs, inheritance, and the breeds affected ...
J M, Fogh, I T, Fogh
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Neurologic Clinics, 2002
The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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Inherited disorders of complement
Journal of the American Academy of Dermatology, 1983Isolated complement component deficiencies are uncommon. Deficiencies of all eleven components and two inhibitors of the classical pathway have been described. Complete absence of the components of the alternative pathway has not been described. The consequences of a single defect in complement are often predictable from an understanding of the ...
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Hematology, 2005
Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Inherited Mitochondrial Disorders
2011Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
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Acta Psychiatrica Scandinavica, 1989
A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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Inherited Disorders of Coagulation in Pregnancy
Clinical Obstetrics and Gynecology, 1995Normal physiology has been reviewed to serve as a basis for understanding the abnormalities leading to the inherited coagulation disorders. These abnormalities involve each of the three arms of the coagulation process: platelets, the coagulation cascade, and the clot prevention/lysis pathways.
F B, Rigby, T E, Nolan
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Inherited disorders of platelets: an update
Current Opinion in Hematology, 2006To overview inherited syndromes that affect platelets and to discuss current data on the molecular origin and management of these rare diseases.An increasing number of genes responsible for inherited thrombocytopenias have been identified and these now extend to glycosylation defects.
Alan T, Nurden, Paquita, Nurden
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