WordNet

an impairment of health or a condition of abnormal functioning
(of genes) producing its characteristic phenotype only when its allele is identical
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.

Rhouma FB1,2, Messai H1,2, Hsouna S1,2, Halim NB1,2, Cherif W1,2, Fadhel SB1,2, Tiar A1,2, Nagara M1,2, Azzouz H3,4, Sfar MT5, Dridi MF3,4, Tebib N3,4, Ayadi A5, Abdelhak S1,2, Kefi R1,2.
Mitochondrial DNA. Part A. DNA mapping, sequencing, and analysis.Mitochondrial DNA A DNA MappSeq Anal.2016 Sep;27(5):3194-8. doi: 10.3109/19401736.2015.1007331. Epub 2015 Dec 24.
Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients
PMID 26704523

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ1.
Gene.Gene.2016 Jul 15;586(1):27-35. doi: 10.1016/j.gene.2016.03.050. Epub 2016 Apr 2.
P22(phox) is a ubiquitous protein encoded by the CYBA gene located on the long arm of chromosome 16 at position 24, containing six exons and spanning 8.5 kb. P22(phox) is a critical component of the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH) oxidases (NOXs). It is asso
PMID 27048830

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.

Piccio L1,2, Deming Y3, Del-Águila JL3, Ghezzi L4,5, Holtzman DM4,6,7, Fagan AM4,6,7, Fenoglio C5, Galimberti D5, Borroni B8, Cruchaga C9,10,11.
Acta neuropathologica.Acta Neuropathol.2016 Jun;131(6):925-33. doi: 10.1007/s00401-016-1533-5. Epub 2016 Jan 11.
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD). TREM2 can be detected as a soluble protein in cerebrospinal fluid (CSF
PMID 26754641

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model

Sato Yasunori,Ren Xiang Shan,Nakanuma Yasuni
International Journal of Hepatology 2012, 107945, 2012
… Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). … The development of the polycystic kidney (PCK) rat, an orthologous rodent model of Caroli's disease with CHF as well as ARPKD, has allowed the molecular pathogenesis of the disease and the therapeutic options for its treatment to be examined. …
NAID 120004186278

A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

Tada Hayato,Kawashiri Masa-aki,Ohtani Rumiko,Noguchi Tohru,Nakanishi Chiaki,Konno Tetsuo,Hayashi Kenshi,Nohara Atsushi,Inazu Akihiro,Kobayashi Junji,Mabuchi Hiroshi,Yamagishi Masakazu
Atherosclerosis 219(2), 663-666, 2011-12
… Background: Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited hypercholesterolemia, the cause of which is mutations in low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. … Although the proband exhibited massive Achilles tendon xanthoma and coronary and aortic valvular disease, serum LDL-C level of subjects with double mutations was similar with that of subjects with single LDLR mutation (284.0 ± 43.5 versus 265.1 ± 57.4. …
NAID 120003752537