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Genes, Dominant definition: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Machado-Joseph Disease definition: 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 definition: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Opitz syndrome (OS) definition: 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 definition: full phenotypic expression of a gene carried on the paired autosomes, in both heterozygotes and homozygotes.
benign familial macrocephaly (BFM) definition: 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 definition: 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 definition: 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 definition: A dominant-negative mutation produces a mutant gene product that can inhibit the function of the wild-type gene product in heterozygotes.
Dominant definition: Exercising influence or control.
ascendant definition: Ancêtre.
ascendant definition: Régnant.
ascendant definition: Dominant, suprême, supérieur, surplombant.
dominant definition: '''dominant'''
dominant definition: Dominant, principal.
dominant definition: Souverain.
dominant definition: Dominant, suprême, supérieur, surplombant.
Leitkultur definition: [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 definition: [1] beherrschend [2] Biologie, Genetik: sich in der Merkmalsausprägung durchsetzend
dominante definition: Note qui fait la quinte au-dessus de la note tonique ou fondamentale.
souverain definition: Celui, celle qui possède, en qui réside l’autorité souveraine.
souverain definition: Prince souverain, monarque.
souverain definition: Monnaie d’or d’Angleterre qui valait une livre sterling.
supérieur definition: Celui, celle qui a autorité sur un autre, qui a le droit de commander à un autre.
supérieur definition: Dans les maisons religieuses,