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Subject Areas on Research
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A New Resource for Characterizing X-linked Genes in Drosophila melanogaster: Systematic Coverage and Subdivision of the X Chromosome with Nested, Y-linked Duplications.
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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.
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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
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A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice.
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A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.
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A microarray analysis of the XX Wnt4 mutant gonad targeted at the identification of genes involved in testis vascular differentiation.
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A microarray analysis of the XX Wnt4 mutant gonad targeted at the identification of genes involved in testis vascular differentiation.
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A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
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Abnormal parathyroid function in the X-linked hypophosphatemic mouse.
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Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse.
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Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder.
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Alpha-amanitin-resistant D. melanogaster with an altered RNA polymerase II.
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Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
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Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP.
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An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.
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An integrated YAC map of the human X chromosome.
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Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease.
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Assessing inheritance of agammaglobulinemia.
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Atypical X-linked agammaglobulinemia.
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Bacillus species infection of the skin as a presentation of severe combined immunodeficiency disease.
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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.
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Chromatin conformation and transcriptional activity are permissive regulators of DNA replication initiation in Drosophila.
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Chromosomal distribution of the major insert in Drosophila melanogaster 28S rRNA genes.
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Chromosomal localization of human glutamate receptor genes.
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Chromosome segregation. Programmed to stay together.
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Cloning of human androgen receptor complementary DNA and localization to the X chromosome.
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Cloning, characterization, and genetic mapping of the rat type 2 angiotensin II receptor gene.
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Comparison of direct and indirect methods of carrier detection in an X-linked disease.
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Consequences of recombination rate variation on quantitative trait locus mapping studies. Simulations based on the Drosophila melanogaster genome.
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Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee.
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Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
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Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig.
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Cross-species amplification, non-invasive genotyping, and non-Mendelian inheritance of human STRPs in Savannah baboons.
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Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect.
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DNA replication and transcription programs respond to the same chromatin cues.
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Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal.
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Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis.
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Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
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Differential replication of ribosomal gene repeats in polytene nuclei of Drosophila.
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Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.
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Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.
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Divergent vascular mechanisms downstream of Sry establish the arterial system in the XY gonad.
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Effect os xid on anti-DNA B-cell precursors.
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Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia.
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Electrophysiological findings in X-linked myopathy with excessive autophagy.
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Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal.
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Epistasis modifies the dominance of loci causing hybrid male sterility in the Drosophila pseudoobscura species group.
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Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse.
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Evolution of fungal sex chromosomes.
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Examination of factors associated with instability of the FMR1 CGG repeat.
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Expression in aneuploid Drosophila S2 cells.
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Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect.
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Expression of the gene defect in X-linked agammaglobulinemia.
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Extreme selective sweeps independently targeted the X chromosomes of the great apes.
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Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
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Familial inheritance of a DXS164 deletion mutation from a heterozygous female.
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Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.
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Fine-scale crossover rate heterogeneity in Drosophila pseudoobscura.
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Flanking markers define the X-linked hypophosphatemic rickets gene locus.
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Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia.
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Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes.
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Genetic and biochemical characterization of mutants at an RNA polymerase II locus in D. melanogaster.
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Genetic studies: look no further than your own backyard.
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Genetics. Origin of species in overdrive.
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Genome-wide architecture of reproductive isolation in a naturally occurring hybrid zone between Mus musculus musculus and M. m. domesticus.
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Genome-wide patterns of expression in Drosophila pure species and hybrid males. II. Examination of multiple-species hybridizations, platforms, and life cycle stages.
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Genomic impacts of chromosomal inversions in parapatric Drosophila species.
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Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.
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Hi-C scaffolded short- and long-read genome assemblies of the California sea lion are broadly consistent for syntenic inference across 45 million years of evolution.
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Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells.
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Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
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Human type 2 angiotensin II receptor gene: cloned, mapped to the X chromosome, and its mRNA is expressed in the human lung.
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Humoral immunodeficiency.
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Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.
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Inherited deletion at Duchenne dystrophy locus in normal male.
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Inherited deletion at Duchenne dystrophy locus in normal male.
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Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX.
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Linkage localization of X-linked Charcot-Marie-Tooth disease.
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Linkage mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome.
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Localization and characterization of X chromosome inversion breakpoints separating Drosophila mojavensis and Drosophila arizonae.
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Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.
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Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas.
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Magnification of the ribosomal genes in female Drosophila melanogaster.
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.
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Mapping of within-species segregation distortion in Drosophila persimilis and hybrid sterility between D. persimilis and D. pseudoobscura.
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Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans.
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Mining copper transport genes.
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Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.
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Molecular determinants of sexual differentiation.
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Molecular evolution of X-linked accessory gland proteins in Drosophila pseudoobscura.
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Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq).
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Multiple gamma c-dependent cytokines regulate T-cell development.
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Mutant alleles of the meiotic locus, mei-9, differ in degree of effects on rod chromosome magnification and ring chromosome transmission in Drosophila.
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Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
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Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.
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NatB domain-containing CRA-1 antagonizes hydrolase ACER-1 linking acetyl-CoA metabolism to the initiation of recombination during C. elegans meiosis.
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New bedfellows in the mammalian sex-determination affair.
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Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets.
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On ribosomal gene compensation in Drosophila.
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One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
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Optical cross-sectional imaging of the macula with the retinal thickness analyzer in X-linked retinoschisis.
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Parathyroid hormone effects on serum 1,25-dihydroxyvitamin D levels in patients with X-linked hypophosphatemic rickets: evidence for abnormal 25-hydroxyvitamin D-1-hydroxylase activity.
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Patients with Fabry disease on dialysis in the United States.
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Pdgfr-alpha mediates testis cord organization and fetal Leydig cell development in the XY gonad.
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Peritubular myoid cells are not the migrating population required for testis cord formation in the XY gonad.
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Pervasive gene conversion in chromosomal inversion heterozygotes.
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Polytenization of the ribosomal genes on the X and Y chromosomes of Drosophila melanogaster.
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Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency.
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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.
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Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20.
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SHAPE reveals transcript-wide interactions, complex structural domains, and protein interactions across the Xist lncRNA in living cells.
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Second-site noncomplementation identifies genomic regions required for Drosophila nonmuscle myosin function during morphogenesis.
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Separation of meiotic and mitotic effects of claret non-disjunctional on chromosome segregation in Drosophila.
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Sequence signatures of a recent chromosomal rearrangement in Drosophila mojavensis.
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Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.
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Serum 1,25-dihydroxyvitamin D levels in subjects with X-linked hypophosphatemic rickets and osteomalacia.
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Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination.
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Single-target molecule detection with nonbleaching multicolor optical immunolabels.
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Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations.
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Stable dicentric X chromosomes with two functional centromeres.
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Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
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Studying recombination with high-throughput sequencing: an educational primer for use with "fine-scale heterogeneity in crossover rate in the garnet-scalloped region of the Drosophila melanogaster X chromosome".
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Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
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Symptomatic giardiasis in three patients with X-linked agammaglobulinemia.
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Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis.
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The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria.
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The battle of the sexes: opposing pathways in sex determination.
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The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets.
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The efficacy of vitamin D2 and oral phosphorus therapy in X-linked hypophosphatemic rickets and osteomalacia.
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The genome of the green anole lizard and a comparative analysis with birds and mammals.
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The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.
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The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X.
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The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer.
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The structure and function of gamma c-dependent cytokines and receptors: regulation of T lymphocyte development and homeostasis.
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Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia.
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Translocation of Y-linked genes to the dot chromosome in Drosophila pseudoobscura.
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Turner phenotype in mother and daughter.
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Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
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Ultrastructural study of Norrie's disease.
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Update on the molecular genetics of Duchenne muscular dystrophy.
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Using comparative genomic data to test for fast-X evolution.
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Variability in B cell maturation and differentiation in X-linked agammaglobulinemia.
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When you hear hoof beats...do not forget the zebras.
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Why is female sex an independent predictor of shortened overall survival after proton/photon radiation therapy for skull base chordomas?
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Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut.
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X-chromosome hyperactivation in mammals via nonlinear relationships between chromatin states and transcription.
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X-linked hypophosphatemic rickets without "rickets".
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X-linked malformations of neuronal migration.
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X-linked neuropathy: gene localization with DNA probes.
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X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.
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Xist exerts gene-specific silencing during XCI maintenance and impacts lineage-specific cell differentiation and proliferation during hematopoiesis.
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Zfp36l3, a rodent X chromosome gene encoding a placenta-specific member of the Tristetraprolin family of CCCH tandem zinc finger proteins.
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Keywords of People
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Bennett, Vann,
George Barth Geller Distinguished Professor of Molecular Biology,
Duke Cancer Institute
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Berchuck, Andrew,
James M. Ingram Distinguished Professor of Gynecologic Oncology,
Obstetrics and Gynecology, Gynecologic Oncology
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Buckley, Rebecca Hatcher,
Professor Emeritus of Pediatrics,
Pediatrics, Allergy and Immunology
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Yildirim, Eda,
Assistant Professor of Cell Biology,
Cell Biology