241 Result(s)
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Article
Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q
Autosomal recessive Duchenne–like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbre...
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Article
A point mutation in the FMR-1 gene associated with fragile X mental retardation
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG i...
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Article
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR–1) located in Xq27....
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Article
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity map**
Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, ...
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Article
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger–like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but p...
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Article
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36
We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family...
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Article
Striking sequence similarity over almost 100 kilobases of human and mouse T–cell receptor DNA
We report here the comparative DNA sequence analysis of nearly 100 kilobases of contiguous DNA in the Cδ to Cα region of the α/δ T cell receptor loci (TCRAC/TCRDC) of mouse and man. This analysis — the largest ge...
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Article
Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene
Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non–Jewish Caucasian...
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Article
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35
Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described — autosomal dominant forms (ALS1, ALS3), clinically indistinguis...
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Article
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
Three folate-sensitive fragile sites, termed FRAXA, FRAXE and FRAXF, have been identified on the distal end of chromosome Xq. The first two contain expanded, hypermethylated and unstable CGG (or GCC) repeats w...
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Article
Microsatellite ‘evolution’: directionality or bias?
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Article
A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
Multiple epiphyseal dysplasia, an autosomal dominant disease, is among the more common inherited osteochondrodysplasias. Symptoms range from stiffness and pain in large joints to frank osteoarthritis associate...
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Chapter
Two-Dimensional Electrophoresis: The State of the Art and Future Directions
Two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) is the only method currently available which is capable of simultaneously separating thousands of proteins. Thus 2-D PAGE is the heart of proteome ...
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Article
Characterization of the full fragile X syndrome mutation in fetal gametes
Fragile X syndrome results from the expansion of the CGG repeat in the FMR1 gene. Expansion has been suggested to be a postzygotic event with the germline protected. From an analysis of intact ovaries of full mut...
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Article
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the proximal parts of the extremities, typical d...
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Article
Telomere elongation by hnRNP A1 and a derivative that interacts with telomeric repeats and telomerase
Telomeric DNA of mammalian chromosomes consists of several kilobase-pairs of tandemly repeated sequences with a terminal 3´ overhang in single-stranded form. Maintaining the integrity of these repeats is essen...
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Article
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway. We have f...
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Article
Correction: Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Nature Genet. 19, 134–139 (1998).
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Article
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus1,2,3. Two distinct...
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Article
DNA methylation represses transcription in vivo
DNA in somatic tissue is characterized by a bimodal pattern of methylation, which is established in the animal through a series of developmental events1. In the mouse blastula, most DNA is unmethylated, but after...
