X Chromosome

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  Subject Areas on Research

  • A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 
  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 
  • A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. 
  • A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice. 
  • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A microarray analysis of the XX Wnt4 mutant gonad targeted at the identification of genes involved in testis vascular differentiation. 
  • A new resource for characterizing X-linked genes in Drosophila melanogaster: systematic coverage and subdivision of the X chromosome with nested, Y-linked duplications. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • Abnormal parathyroid function in the X-linked hypophosphatemic mouse. 
  • Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. 
  • Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder. 
  • Alpha-amanitin-resistant D. melanogaster with an altered RNA polymerase II. 
  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • An integrated YAC map of the human X chromosome. 
  • Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease. 
  • Assessing inheritance of agammaglobulinemia. 
  • Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. 
  • Bacillus species infection of the skin as a presentation of severe combined immunodeficiency disease. 
  • Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. 
  • Chromosomal localization of human glutamate receptor genes. 
  • Chromosome segregation. Programmed to stay together. 
  • Cloning of human androgen receptor complementary DNA and localization to the X chromosome. 
  • Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. 
  • Comparison of direct and indirect methods of carrier detection in an X-linked disease. 
  • Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. 
  • Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. 
  • Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. 
  • Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. 
  • DNA replication and transcription programs respond to the same chromatin cues. 
  • Delayed onset of infectious mononucleosis associated with acquired agammaglobulinemia and red cell aplasia. 
  • Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. 
  • Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. 
  • Differential replication of ribosomal gene repeats in polytene nuclei of Drosophila. 
  • Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. 
  • Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. 
  • Divergent vascular mechanisms downstream of Sry establish the arterial system in the XY gonad. 
  • Effect os xid on anti-DNA B-cell precursors. 
  • Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. 
  • Electrophysiological findings in X-linked myopathy with excessive autophagy. 
  • Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal. 
  • Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. 
  • Epstein-Barr virus as an etiological agent in the pathogenesis of lymphoproliferative and aproliferative diseases in immune deficient patients. 
  • Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse. 
  • Evolution of fungal sex chromosomes. 
  • Examination of factors associated with instability of the FMR1 CGG repeat. 
  • Expression in aneuploid Drosophila S2 cells. 
  • Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect. 
  • Expression of the gene defect in X-linked agammaglobulinemia. 
  • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. 
  • Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes. 
  • Genetic and biochemical characterization of mutants at an RNA polymerase II locus in D. melanogaster. 
  • Genetic studies: look no further than your own backyard. 
  • Genetics. Origin of species in overdrive. 
  • Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. 
  • Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Human type 2 angiotensin II receptor gene: cloned, mapped to the X chromosome, and its mRNA is expressed in the human lung. 
  • Humoral immunodeficiency. 
  • IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Linkage localization of X-linked Charcot-Marie-Tooth disease. 
  • Linkage mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome. 
  • Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas. 
  • Magnification of the ribosomal genes in female Drosophila melanogaster. 
  • Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. 
  • Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans. 
  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. 
  • Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). 
  • Multiple gamma c-dependent cytokines regulate T-cell development. 
  • Mutant alleles of the meiotic locus, mei-9, differ in degree of effects on rod chromosome magnification and ring chromosome transmission in Drosophila. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome. 
  • New bedfellows in the mammalian sex-determination affair. 
  • Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 
  • One tissue, two fates: molecular genetic events that underlie testis versus ovary development. 
  • Pdgfr-alpha mediates testis cord organization and fetal Leydig cell development in the XY gonad. 
  • Peritubular myoid cells are not the migrating population required for testis cord formation in the XY gonad. 
  • Polytenization of the ribosomal genes on the X and Y chromosomes of Drosophila melanogaster. 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. 
  • Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. 
  • Reproductive Mode and the Evolution of Genome Size and Structure in Caenorhabditis Nematodes. 
  • SHAPE reveals transcript-wide interactions, complex structural domains, and protein interactions across the Xist lncRNA in living cells. 
  • Second-site noncomplementation identifies genomic regions required for Drosophila nonmuscle myosin function during morphogenesis. 
  • Separation of meiotic and mitotic effects of claret non-disjunctional on chromosome segregation in Drosophila. 
  • Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. 
  • Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination. 
  • Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations. 
  • Stable dicentric X chromosomes with two functional centromeres. 
  • Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. 
  • Symptomatic giardiasis in three patients with X-linked agammaglobulinemia. 
  • Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis. 
  • The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria. 
  • The X chromosome and the female survival advantage: an example of the intersection between genetics, epidemiology and demography. 
  • The battle of the sexes: opposing pathways in sex determination. 
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 
  • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 
  • The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. 
  • The structure and function of gamma c-dependent cytokines and receptors: regulation of T lymphocyte development and homeostasis. 
  • Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Ultrastructural study of Norrie's disease. 
  • Update on the molecular genetics of Duchenne muscular dystrophy. 
  • When you hear hoof beats...do not forget the zebras. 
  • Why is female sex an independent predictor of shortened overall survival after proton/photon radiation therapy for skull base chordomas? 
  • X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. 
  • X-chromosome hyperactivation in mammals via nonlinear relationships between chromatin states and transcription. 
  • X-linked genetic factors regulate hematopoietic stem-cell kinetics in females. 
  • X-linked hypophosphatemic rickets without "rickets". 
  • X-linked neuropathy: gene localization with DNA probes. 
  • X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. 
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  Keywords of People

  • Bennett, Vann, George B. Geller Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Yildirim, Eda, Assistant Professor of Cell Biology, Cell Biology