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

Two half-brothers with short stature secondary to growth hormone deficiency and a family history implicating X-linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. His half-brother also had a normal physical examination, except for severe short stature and very small external genitalia. Deficiencies of ACTH, and TSH as well as GH were documented. An i.v. GnRH test showed no LH or FSH response. These studies support the existence of an X-linked recessive form of hypopituitarism and portend the clinical usefulness of the i.v. GnRH test in evaluating gonadotropin reserve.
 ...
PMID:Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males. 19 3

Assays for dominant lethal mutations, sex-linked recessive lethal mutations, and chromosomal breakage, nondisjunction and loss were performed on Drosophila melanogaster males treated by injection or by larval feeding of the herbicides atrazine (2-chloro-4-ethylamino-6-isopropylamino-1,3,5-triazine), cyanazine [2-chloro-4-(1-cyano-1-methylethylamino)-6-ethylamino-1,3,5-triazine], or simazine [2-chloro-4,6-bis-(ethylamino)-1,3,5-triazine]. The three herbicides significantly increased the rate of apparent dominant lethals, but this reduction in egg hatch was probably due to physiologic toxicity to sperm. Atrazine significantly increased X-linked recessive lethals and X or Y loss after treatment by larval feeding. Injection of simazine elevated X-linked lethals, whereas treatment by larval feeding did not. None of these herbicides significantly increased partial loss of the Y chromosome nor sex chromosome nondisjunction. Much larger experiments are needed to determine with confidence the mutagenic potential of these herbicides.
 ...
PMID:Mutagenicity of the triazine herbicides atrazine, cyanazine, and simazine in Drosophila melanogaster. 41 80

A family with X-linked recessive microcephaly is reported. As patients there were found 8 men or boys respectively out of 3 generations, all of them being related by their mentally healthy mothers. Besides microcephaly the patients showed growth retardation and obesity. Some of them, in addition, had various anomalies as inguinal or umbilical hernias, cryptorchism, tapering fingers, contractures, deeply rooted thumbs and club-feet. There were no hints for a metabolic defect or a chromosomal aberration. The dermatoglyphics could be investigated in 5 patients and showed in all of them a shifting of the axial triradius into the distal position t'. Comparing the own findings with case reports on X-linked microcephalies, the above mentioned family was found not to correspond to any of these observations. It is assumed that in this family, a new disease has occurred which until now has not yet been described, so that the X-linked microcephalies seem to be a heterogenous group of disease from the genetic point of view.
 ...
PMID:[Recessive microencephaly linked to the X chromosome]. 57 88

A large family with dyskeratosis congenita is reported. There were nine affected males, the findings in five of who are reported. We review 46 cases selected from the literature. The cardinal findings of this inherited multisystem disorder are delineated from these 51 cases. The complications of the disease, including opportunistic infection, are described. The parallel is made between dyskeratosis congenita and Fanconi's anaemia. The X-linked transmission of dyskeratosis congenita is confirmed by the family pedigree in this report. From the analysis of the families reported in the literature, there appears to be genetic heterogeneity in this disease. This study in our family indicates absence of close linkage between the Xga locus and the X-linked recessive form of dyskeratosis congenita.
 ...
PMID:Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. 76 76

We present 19 patients from 12 families with mild (Becker) X-linked recessive dystrophy and compare them with previously described cases. Features in common in the majority of patients include onset after the age of 7 years, walking beyond the age of 20 to 30 years, mild hypertrophy of the calves, mild joint contractures, and high arched feet. Pshychometric tests, EEGs, and ECGs were usually normal. Muscle biopsy specimens showed a combination of features, some more characteristic of severe (Duchenne) X-linked dystrophy and others more commonly seen in limb girdle dystrophy. Although there was some variation in the severity between different families, within any one kindred, the clinical picture was quite similar.
 ...
PMID:The spectrum of mild X-linked recessive muscular dystrophy. 88 66

The aim of the present work is to investigate the heredity of manic-depressive syndromes, in particular to test the hypothesis of a dominant X-linked transmission in these disorders. The Maximum Likelihood Estimate method was applied to linkage analysis between several X-linked genetic markers and bipolar manic-depressive illness, as well as to a control population of unipolar depressive patients. The genetic markers studied were deuteranopia and protanopia (two X-linked recessive markers) and the Xg blood group (X-linked dominant marker). The sampling methods were identical for both groups of patients and the family studies were performed "blind" (i,e. without knowledge of the proband's diagnosis). The results demonstrate the presence of strong linkage between manic-depressive (bipolar) illness, deuteranopia and protanopia. Linkage (although less strong) was also shown for bipolar illness and the Xg blood group. The genetic data are based on mathematical analysis of 36 informative kindreds ascertained from a sample of 134 manic-depressive patients. The results are concordant and demonstrate that, in this sample, manic-depressive (biopolar) psychosis is genetically transmitted through a X-linked dominant factor. We have also demonstrated the absence of linkage between unipolar depressive illness and the studied genetic markers in 16 informative kndreds ascertained from a sample of 71 unipolar patients. The genetic analyses described in this study demonstrate the existence of a manic-depressive syndrome which phenotype is dominant and determined by a gene located on the short arm of the Xchromosome. Apart from some forms of mental deficiency, manic-depressive psychosis represents the first known instance of a mendelian heredity machanism in psychiatric disorder;
 ...
PMID:[Genetic study of mani-depressive psychoses]. 102 56

It has been suggested that ultrastructural studies of keratohyalin granules in the granular layer of the skin can clearly distinguish the dominant type from the X-linked recessive type of ichthyosis vulgaris. The distinctive features are found in the granular layer and the keratohyalin granules. In the dominant form the granular layer is absent or reduced in size and the keratohyalin granules are minute and crumbly in appearance. In the recessive form the granular layer and keratohyalin granules are normal. A family which probably has dominant ichthyosis vulgaris is described. The stratum granulosum and keratohyalin granules as determined by both light and electron microscopy are normal. In view of the inconstant morphologic appearance of the stratum granulosum in ichthyosis vulgaris, it is suggested that distinction between the dominant and X-linked forms should not be based on the structural characteristics of the granular layer alone, but rather on a combined evaluation of the pedigree, clinical features and the appearance of the stratum granulosum.
 ...
PMID:Dominant ichthyosis vulgaris with an ultrastructurally normal granular layer. 124 65

In a population at equilibrium for a sex-linked lethal, one-third of the genes for that lethal must arise anew each generation. Therefore, one-third of all cases of Lesch-Nyhan disease, a severe X-linked recessive lethal disorder, should be new mutants. To test this hypothesis, we have collected 47 families, 20 with a single proband and 27 with multiple affected males in which the patients' mothers and other female relatives had been studied for heterozygosity. Available carrier detection tests identify heterozygous for HPRT deficiency in hair roots and skin fibroblasts. Only four mothers were found not to be carriers. This result deviates significantly from expected (P less than .001). Statistical tests for ascertainment effects indicated absence of bias for multiple proband families but strong bias in favor of families with many heterozygous females. When the analysis was limited to single proband families, the deviation from expected was still significant (P less than .01). The incidence of new mutants among the heterozygous mothers, as determined by the ratio of +/+ to +/- maternal grandmothers, should be one-half (see Appendix). Of all 20 maternal grandmothers studied, five were +/+ and 15 were +/- (P less than .05). Considering only the single proband families, the ratio of 5 +/+ to 8 +/- was not significantly different from expected. In four of the five cases in which the heterozygous mother of an affected individual was a new mutation, the age of her parents was considerably higher than the mean parental age in the population. This raises the possibility of a paternal age effect on X-linked mutations. There appears to be a true deficiency of new mutatnts among males but not among females. Data on additional Lesch-Nyhan families are needed before conclusions regarding a possible higher mutation rate in males can be drawn.
 ...
PMID:The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. 126 47

Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.
 ...
PMID:The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. 130 Nov 61

This review describes the clinical, immunologic and pathologic features of two naturally-occurring models of severe combined immunodeficiency (SCID) in domestic animals that represent different forms of human SCID. Canine X-linked SCID (XSCID) has an X-linked recessive mode of inheritance and, as such, represents a model for the most common form of human SCID in the United States. Affected dogs have normal percentages of circulating B cells and low to normal percentages of phenotypically mature, but nonfunctional T cells. Severe combined immunodeficiency in the horse is an autosomal recessive form of SCID that is characterized by a profound lymphopenia affecting both the B and T cell lineage most likely due to a lymphoid stem cell defect. Since these diseases are naturally-occurring in an outbred species, like man, they represent unique animal models of their respective human counterparts in which to determine the underlying immunologic defect(s), to evaluate novel approaches to immunotherapy or gene therapy, and to evaluate therapeutic regimens for opportunistic infections associated with SCID.
 ...
PMID:Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. 144 87


1 2 3 4 5 6 7 8 9 10 Next >>