266 Result(s)

Article

Mode of organization of lipid aggregates: A conformational analysis

A computational approach is used to predict the mode of organization of lipid molecules. The calculated aggregate states are fully compatible with the lipid phase preference: bilayers for dipalmitoylphosphatid...

Robert Brasseur, Ben de Kruijff, Jean-Marie Ruysschaert in Bioscience Reports (1984)

Article

Phospholipids as a possible instrument for translocation of nascent proteins across biological membranes

The interaction of phospholipids with precursor proteins, particularly with the mitochondrial precursor protein apocytochromec is reviewed and integrated with other aspects of protein insertion and translocation,...

Annie Rietveld, Ben de Kruijff in Bioscience Reports (1986)

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...

Kamel Ben Othmane, Mongi Ben Hamida, Margaret A. Pericak-Vance… in Nature Genetics (1992)

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...

Kristel De Boulle, Annemieke J.M.H. Verkerk, Edwin Reyniers, Lieve Vits… in Nature Genetics (1993)

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....

Edwin Reyniers, Lieve Vits, Kristel De Boulle, Bernadette Van Roy… in Nature Genetics (1993)

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, ...

C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder, L. Reutenauer… in Nature Genetics (1993)

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...

Peter Heutink, Julia Zguricas, Linda van Oosterhout, Guido J. Breedveld… in Nature Genetics (1994)

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...

Olga Tsukurov, Annemie Boehmer, Jack Flynn, Jean-Philippe Nicolai… in Nature Genetics (1994)

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...

Ben F. Koop, Leroy Hood in Nature Genetics (1994)

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...

B. Glaser, K.C. Chiu, R. Anker, A. Nestorowicz, H. Landau, H. Ben-Bassat… in Nature Genetics (1994)

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...

Afif Hentati, Khemissa Bejaoui, Margaret A. Pericak-Vance… in Nature Genetics (1994)

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...

Julia E. Parrish, Ben A. Oostra, Annemieke J.M.H. Verkerk… in Nature Genetics (1994)

Article

Microsatellite ‘evolution’: directionality or bias?

Hans Ellegren, Craig R. Primmer, Ben C. Sheldon in Nature Genetics (1995)

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...

Yasuteru Muragaki, Edwin C.M. Mariman, Sylvia E.C. van Beersum… in Nature Genetics (1996)

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...

Henry E. Malter, Jane C. Iber, R. Willemsen, Esther de Graaff… in Nature Genetics (1997)

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...

Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout, Pedro Brites… in Nature Genetics (1997)