Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrichosis was noted on a confined area of skin in the midline of the throat, just cranial to the laryngeal prominence, in three males and four females through three generations of a Japanese family. The proband, an 11-year-old girl, in addition had a 46 X,i(Xq) karyotype, short stature and other stigmata of the Turner syndrome. Her mother and one younger brother both had a hairy throat on examination. On the mother's side, the proband's grandmother, aunt, uncle and a male cousin, all reportedly had a hairy throat. No instance of male-to-male transmission was present. The trait was thus inherited as either an autosomal or X-linked dominant.
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PMID:Hairy throat: a dominant trait affecting seven members of a family. 828 Dec 87

Drosophila determines its sex by "counting" X chromosomes. We show that premature expression of the pair-rule segmentation gene hairy interferes with this process, resulting in female-specific lethality by inhibiting initiation of the master control gene Sex-lethal (Sxl). The female-specific lethality can be suppressed by a constitutive Sxl allele or by extra copies of X-linked "counting elements." These results are best explained by competition between hairy and other helix-loop-helix transcription factors that act in chromosome counting. We have confirmed this model by showing that misexpression of the achaete-scute T4 gene induces ectopic Sxl expression and male-specific lethality, confirming that achaete-scute T4 is the sisterless-b counting element. We propose that X chromosomes are counted through heterodimers of helix-loop-helix transcription factors that act synergistically to initiate Sxl expression.
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PMID:X:A ratio, the primary sex-determining signal in Drosophila, is transduced by helix-loop-helix proteins. 212 16

A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling.
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PMID:Epidermal nevus syndromes. 764 Jan 90

We describe a patient who has a chronic polyclonal B lymphocyte proliferation with a hairy-cell appearance. A 48-year-old Japanese woman with marked splenomegaly, systemic lymphadenopathy, and leukocytosis was referred to out hospital. Laboratory examination revealed marked polyclonal IgG hypergammaglobulinemia. Morphologic examination of the patient's peripheral blood, including May-Giemsa staining and scanning electron microscopy, showed a monotonous proliferation of hairy-appearing mature lymphocytes. An immunophenotypic study revealed an expansion of cells with mature B cell antigens positive for CD11c; however, light-chain restriction was not seen. The lack of both immuno-globulin heavy-chain and T cell receptor gene rearrangements by Southern blot analysis indicated the polyclonal nature of the proliferating B cells. This was confirmed further by a clonal analysis of the patient's lymphocytes using an X-chromosome-linked restriction fragment polymorphism within the X-linked phosphoglycerate kinase (PGK) gene. Since chronic B cell lymphoproliferation with a hairy cell appearance has not been described previously, this case might be extremely rare, and has important implication for the pathogenesis of mature B cell lymphoproliferative diseases, including hairy cell leukemia.
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PMID:Polyclonal B cell chronic lymphoproliferative disease with hairy cell morphology: a case report and clonal studies. 857 55

The highly endangered northern hairy-nosed wombat (Lasiorhinus krefftii) is extremely difficult to study in the wild, and its numbers correspondingly difficult to estimate. Disturbance to the animals caused by trapping and radio-tracking may not only constitute an excessive risk to the population's viability, but may also yield biased data. The results of a pilot study are presented, which clearly show noninvasive genotyping to be a highly feasible and reliable alternative censusing method for L. krefftii. The protocol can identify individual wombats from single hairs collected remotely at burrow entrances, using: (i) a panel of microsatellite markers giving individual-specific genotypes; and (ii) a Y-linked sexing marker in combination with a single-copy X-linked amplification control. Using just the eight most variable microsatellites (of 20 available), only one in 200 pairs of full-sibs are predicted to share the same genotype. From 12 wombat hair samples collected on tape suspended over burrow entrances, three known female, two known male and an unknown wombat of each sex were identified. The approach will allow censusing of individuals that evade capture, and will also reveal some otherwise problematic aspects of the behaviour of this elusive animal.
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PMID:Highly reliable genetic identification of individual northern hairy-nosed wombats from single remotely collected hairs: a feasible censusing method. 1097 63

Artificial selection was carried out for over 45 generations to enhance and suppress expression of the mutation hairy on the Drosophila melanogaster wing. Whole chromosome mapping of X-linked and autosomal modifiers of sense organ number displayed regional differences in magnitude and direction of their effects. Regional specificity of modifier effects was also seen in some interchromosomal interactions. Scanning electron microscopy allowed precise measurement of sense organ size and position along the L3 longitudinal wing vein. Sense organ size varied in a predictable fashion along the proximal-distal axis, and the dorsal pattern differed from the ventral pattern. The high and low selection lines differed most in the proximal portion of the L3 vein. Extra sense organs in the High line were often associated with vein fragments at locations predicted from ancestral vein patterns. Thus, regional specificity of polygenic or quantitative trait locus modifier effects was identified in several different parts of the wing.
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PMID:Spatial differences in patterns of modification: selection on hairy in Drosophila melanogaster wings. 1143 Apr 81