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Genetics of Hirschsprung’s disease
Pediatric Surgery International, 2023Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in approximately 2-2.8 in 10,000 newborns. It is the commonest form of congenital bowel obstruction and is characterized by the absence of enteric ganglia in distal colon.
Clara Sze-Man, Tang +4 more
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Parkinsonism & Related Disorders, 2010
Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin resulting in excessive accumulation of copper in the liver and extrahepatic tissues.
Madhuri, Behari, Vibhor, Pardasani
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Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin resulting in excessive accumulation of copper in the liver and extrahepatic tissues.
Madhuri, Behari, Vibhor, Pardasani
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The Variability of Genetic Disease
New England Journal of Medicine, 2012It is never boring to be a physician because patients are so different. Each patient has a story to tell, and few have disorders that match textbook descriptions. By the same token, we need to be careful when predicting the future for our patients, and finding the appropriate therapy is often a matter of trial and error as much as science and protocol.
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The genetics of Parkinson disease
Ageing Research Reviews, 2018About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association ...
Hao, Deng, Peng, Wang, Joseph, Jankovic
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The genetics of Alzheimer's disease
Progress in Neurobiology, 1997Alzheimer's disease (AD) is the major cause of dementia in the U.K. The clinical diagnosis of the specific disease resulting in dementia is unreliable and thus a definitive diagnosis of AD is best made in conjunction with post-mortem findings of amyloid plaques and neurofibrillary tangles. Alzheimer's disease is neuropathologically indistinguishable in
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The Genetics of Alzheimer’s Disease
2007Publisher Summary This chapter emphasizes that Alzheimer's disease (AD) is the most common form of age-related dementia and is characterized by progressive and insidious neurodegeneration of the central nervous system eventually leading to a gradual decline of cognitive function and dementia. Despite the great progress in the field of AD genetics that
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The Genetics of Crohn's Disease
Annual Review of Genomics and Human Genetics, 2009From epidemiological data, based on concordance data in family studies, via linkage analysis to genome-wide association studies, we and others have accumulated robust evidence implicating more than 30 distinct genomic loci involved in the genetic susceptibility to Crohn's disease (CD).
Johan, Van Limbergen +2 more
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Current Opinion in Pediatrics, 1998
Atopic (allergic) disorders develop out of a close interaction between genetic predisposition and environmental triggers. A unifying attribute underlying these disorders is atopy, defined as the predisposition of those affected to generate IgE antibodies to environmental antigens and to respond with immediate-type hypersensitivity reactions upon ...
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Atopic (allergic) disorders develop out of a close interaction between genetic predisposition and environmental triggers. A unifying attribute underlying these disorders is atopy, defined as the predisposition of those affected to generate IgE antibodies to environmental antigens and to respond with immediate-type hypersensitivity reactions upon ...
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Current Opinion in Pediatrics, 1998
Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
P, Saborio, J, Scheinman
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Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
P, Saborio, J, Scheinman
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