Autosomal Dominant
Gene identification in autosomal dominant disorders
... The report by Kerr et al highlights the occurrence of pancreatic neoplasms in patients with tuberous sclerosis. The letter from Teh et al serves to highlight the current state of gene location/identification for the ...
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Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
... to autosomal dominant renal PHA1 and mutations in the ENaC alpha, beta and gamma subunit genes (SCNN1A, SCNN1B and SCNN1G) leads to auto- somal recessive severe systemic PHA1 ...
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Autosomal dominant hemochrom atosis is associated with a mutation in the ferroportin (SLC11A3) gene
... an autosomal-recessive pattern and associated with mis- sense mutations in HFE, an atypical major histocompatibility class I ...with autosomal-dominant hemochromatosis not linked to HFE and ...
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings
... cerebral autosomal dominant arteriopathy with subcortical infarcts and ...cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy had moderate or severe ...
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Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease
... (PSEN1) or presenilin 2 (PSEN2) – or dupli cation of APP. Approximately 50% of people from these kindreds are mutation carriers destined to develop dementia of the Alzheimer’s type, generally at an early age (~30 to 50 ...
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Familial Arachnoid Cysts in Association With Autosomal Dominant Polycystic Kidney Disease
... ABSTRACT. Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder well-known for its association with intracranial ...tosomal dominant polycystic kidney disease, familial ...
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
... Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of hereditary cere- bral microangiopathy, and is caused by over 170 ...
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STAT5 drives abnormal proliferation in autosomal dominant polycystic kidney disease.
... Autosomal dominant polycystic kidney disease (ADPKD) leads to renal failure. The hallmark of ADPKD is increased epithelial proliferation, which has been proposed to be due to atypical signalling including ...
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Metformin in autosomal dominant polycystic kidney disease: experimental hypothesis or clinical fact?
... Background: Autosomal dominant polycystic kidney disease (ADPKD) accounts for 8 – 10% of end-stage chronic kidney disease (CKD) patients worldwide. In the last decade, the advanced knowledge in genetics and ...
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Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney
... Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder and the fourth cause of death of end-stage renal disease, ac- counting for 10% of patients on dialysis ...
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High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
... Autosomal dominant HSPs (AD-HSPs) represent around 70% of cases of uncomplicated HSPs [4]. SPG4 is the most common form of AD-HSP, accounting for around 40% of the families in previous reports [2,5]. Spas- ...
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Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
... B. Nmezi reports no disclosures. E. Giorgio holds patents for 3 siRNA sequences targeting a single allele of the human Lam- inB1 gene as therapeutic option for Autosomal Dominant Leukodystrophy. R. Raininko ...
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Study of Autosomal Dominant Polycystic Kidney Disease Clinical Profile and Family Screening
... Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease (Gabow , PA, Bennet WM, Breuning MH, Peter DJM) ADPKD affect approximately 500000 population in united states ...
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Should Patients with Autosomal Dominant Polycystic Kidney Disease Be Screened for Cerebral Aneurysms?
... SUMMARY: Autosomal dominant polycystic kidney disease is a genetic disorder affecting 1 in 1000 people worldwide and is associated with an increased risk of intracranial ...
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Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21 23
... Although significant progress has been made in the eluci- dation of the molecular pathogenesis of the cardiovascular dis- orders outlined above, little success had been attained for DCM. Until last year, the only FDCM ...
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Lymphocyte infiltration in <em>CAPN5</em> autosomal dominant neovascular inflammatory vitreoretinopathy
... Mutations in the CAPN5 gene cause autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), an inherited uveitis and vitreoretinal degeneration without systemic features..[r] ...
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Urine Fetuin A is a biomarker of autosomal dominant polycystic kidney disease progression
... Abbreviations AC6: Adenylate cyclase-6; ADPKD: Autosomal dominant polycystic kidney disease; AKI: Acute kidney injury; AUC: Area under the curve; BP: Blood pressure; CKD: Chronic kidney [r] ...
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Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
... ADPKD: Autosomal dominant polycystic kidney disease; CKD: Chronic kidney disease; CKD-EPI: Chronic kidney disease epidemiology collaboration; CT: Computed tomography; ESRD: End-stage renal disease; GFR: ...
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Discovery and validation of autosomal dominant Alzheimer’s disease mutations
... We gratefully acknowledge the altruism of the participants and their families and contributions of the DIAN research and support staff at each of the participating sites for their contributions to this study. The DIAN ...
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Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland
... Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of progressive chronic kidney disease (CKD) and end-stage renal disease (ESRD) ...
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