Genes, Recessive

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  Subject Areas on Research

  • A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 
  • A mutation in Arabidopsis that leads to constitutive expression of systemic acquired resistance. 
  • A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 
  • A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. 
  • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. 
  • A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. 
  • A systematic approach to mapping recessive disease genes in individuals from outbred populations. 
  • A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 
  • An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15. 
  • Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 
  • Are Lethal Alleles Too Abundant in Humans? 
  • Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. 
  • BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 
  • Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 
  • Clinical and pathologic features of familial focal segmental glomerulosclerosis. 
  • Coat color genetics of Peromyscus: V. California blonde, a new recessive mutation in the deer mouse. 
  • Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 
  • Cse1l is a negative regulator of CFTR-dependent fluid secretion. 
  • Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. 
  • Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. 
  • Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 
  • Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory. 
  • Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 
  • Exploring the molecular basis of Bardet-Biedl syndrome. 
  • FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. 
  • Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. 
  • Familial spinocerebellar degeneration with corneal dystrophy. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 
  • Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci. 
  • Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 
  • Genetic linkage of hyper-IgE syndrome to chromosome 4. 
  • Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. 
  • Genome-wide scan for adult onset primary open angle glaucoma. 
  • Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. 
  • Haplotype effects on human survival: logistic regression models applied to unphased genotype data. 
  • Hereditary complement (C2) deficiency with dermatomyositis. 
  • 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. 
  • Humoral immunodeficiency. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 
  • Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods. 
  • Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii. 
  • Identification of yeast mutants with altered telomere structure. 
  • Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. 
  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 
  • LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 
  • Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 
  • Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans. 
  • Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 
  • Molecular cloning of sequences from a Drosophila RNA polymerase II locus by P element transposon tagging. 
  • Murine congenital polycystic kidney disease: a model for studying development of cystic disease. 
  • Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. 
  • Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 
  • Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 
  • Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. 
  • Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 
  • Nephronophthisis-associated ciliopathies. 
  • On the evolution of genetic incompatibility systems. IV. Modification of response to an existing antigen polymorphism under partial selfing. 
  • Optic nerve compression in infantile malignant autosomal recessive osteopetrosis. 
  • Ordered-subset analysis (OSA) for family-based association mapping of complex traits. 
  • PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. 
  • Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 
  • Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 
  • Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. 
  • Potentially functional variants in the core nucleotide excision repair genes predict survival in Japanese gastric cancer patients. 
  • Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies. 
  • The cpr5 mutant of Arabidopsis expresses both NPR1-dependent and NPR1-independent resistance. 
  • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 
  • The genetics of inbreeding depression. 
  • Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney. 
  • Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 
  • Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. 
  • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 
  • Update on the molecular genetics of Duchenne muscular dystrophy. 
  • VATER and hydrocephalus: distinct syndrome? 
  • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Gottfried, Oren N, Professor of Neurosurgery, Neurosurgery
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McCarthy, Janice Marie, Medical Instructor in Biostatistics and Bioinformatics, Biostatistics & Bioinformatics
  • Preminger, Glenn Michael, James F. Glenn, M.D. Professor of Urology, Surgery
  • Roth, V. Louise, Professor of Biology, Evolutionary Anthropology