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Genes, Dominant 정의: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Machado-Joseph Disease 정의: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Polycystic Kidney, Autosomal Dominant 정의: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Opitz syndrome (OS) 정의: First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated disorders may include craniofacial anomalies, congenital heart defects, laryngotracheal disorders with dysphagia and aspiration, developmental delay, and other abnormalities. Most symptoms occur in both genetically determined forms, except for anteverted nares and posterior pharyngeal cleft which are found only in X-linked families. The acronym BBB stands for the initials of the last names of each of the three originally reported families. Opitz described the G syndrome, also named after the affected family, consisting of apparent hypertelorism, mild downslanting of the palpebral fissures, epicanthal folds, hypospadias, and laryngotracheoesophageal defects.
autosomal dominant trait 정의: full phenotypic expression of a gene carried on the paired autosomes, in both heterozygotes and homozygotes.
benign familial macrocephaly (BFM) 정의: A benign form of macrocephaly, sometimes identified with Sotos syndrome, with normal or near-normal birth weight and length with subsequent obesity, variable developmental delay, and typical square facies with frontal bossing, dished-out midface, biparietal narrowing, and long philtrum.
Optic Atrophy, Autosomal Dominant 정의: Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Hyperlipoproteinemia Type IIa 정의: Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
Dominant-Negative Mutation 정의: A dominant-negative mutation produces a mutant gene product that can inhibit the function of the wild-type gene product in heterozygotes.
Dominant 정의: Exercising influence or control.
ascendant 정의: Ancêtre.
ascendant 정의: Régnant.
ascendant 정의: Dominant, suprême, supérieur, surplombant.
dominant 정의: '''dominant'''
dominant 정의: Dominant, principal.
dominant 정의: Souverain.
dominant 정의: Dominant, suprême, supérieur, surplombant.
Leitkultur 정의: [1] Diejenige Kultur (im Sinne von Sprache, Sitten und Gebräuche, Werte), die in einer Region oder in einem Land dominant und richtungsangebend ist, weil sie entweder die örtlich angestammte ist oder die von der Mehrheit der Einwohner praktizierte.
dominant 정의: [1] beherrschend [2] Biologie, Genetik: sich in der Merkmalsausprägung durchsetzend
dominante 정의: Note qui fait la quinte au-dessus de la note tonique ou fondamentale.
souverain 정의: Celui, celle qui possède, en qui réside l’autorité souveraine.
souverain 정의: Prince souverain, monarque.
souverain 정의: Monnaie d’or d’Angleterre qui valait une livre sterling.
supérieur 정의: Celui, celle qui a autorité sur un autre, qui a le droit de commander à un autre.
supérieur 정의: Dans les maisons religieuses,