308 Result(s)

Article

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

The incidence of cystic fibrosis (CF) and the frequency of disease-causing mutations varies among different ethnic and geographic populations. The Jewish population around the world is comprised of two major e...

Eitan Kerem, Yoram M. Kalman, Yaacov Yahav, Tzipora Shoshani… in Human Genetics (1995)

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

Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice

A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform casecontrolled studies in patients with fragile X syndrome,...

Edwin Reyniers, Dirk R. Van Bockstaele, Kristel De Boulle, R. Frank Kooy… in Human 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)

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...

Hélène LaBranche, Sophie Dupuis, Yaacov Ben-David, Maria-Rosa Bani… in Nature Genetics (1998)

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...

Patrizia D'Adamo, Andrea Menegon, Cristiana Lo Nigro, Marina Grasso… in Nature Genetics (1998)

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 strabismus^1,2,3. Two distinct...

N. Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (1998)

Article

Screening with the FMR1 protein test among mentally retarded males

The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused ...

B. B. A. de Vries, Serieta Mohkamsing, Ans M. W. van den Ouweland… in Human Genetics (1998)

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...

Zahava Siegfried, Sharon Eden, Monica Mendelsohn, Xu Feng… in Nature Genetics (1999)

Article

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease lo...

Angela Brooks-Wilson, Michel Marcil, Susanne M. Clee, Lin-Hua Zhang… in Nature Genetics (1999)

Article

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

We demonstrate here the importance of interleukin signalling pathways in cognitive function and the normal physiology of the CNS. Thorough investigation of an MRX critical region in Xp22.1–21.3 enabled us to i...

Alain Carrié, Lin Jun, Thierry Bienvenu, Marie-Claude Vinet… in Nature Genetics (1999)

Article

Feature extraction and clustering tools for analysing gene expression data from DNA microarrays

Nick Sampas, Zohar Yakhini, Glenda Delenstarr, Cynthia Enderwick… in Nature Genetics (1999)

Article

Identification of the gene causing mucolipidosis type IV

Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder¹ characterized by psychomotor retardation and ophthalmological abnormalities including corneal opacities, reti...

Ruth Bargal, Nili Avidan, Edna Ben-Asher, Zvia Olender, Marcia Zeigler… in Nature Genetics (2000)

Article

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental retardation¹. So far, seven X-chromosomal genes mutated in nonsp...

Kerstin Kutsche, Helger Yntema, Alexander Brandt, Inka Jantke… in Nature Genetics (2000)

Article

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination¹. Within...

N.Torben Bech-Hansen, Margaret J. Naylor, Tracy A. Maybaum… in Nature Genetics (2000)

Article

The imprinting box of the Prader-Willi/Angelman syndrome domain

A subset of mammalian genes is monoallelically expressed in a parent-of-origin manner. These genes are subject to an imprinting process that epigenetically marks alleles according to their parental origin duri...

Ruth Shemer, Alon Y. Hershko, Jonathan Perk, Raul Mostoslavsky… in Nature Genetics (2000)