229 Result(s)

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)

Article

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1–4). ...

Omer T. Njajou, Norbert Vaessen, Marijke Joosse, Bianca Berghuis… in Nature Genetics (2001)

Article

Allelic Deletion Fingerprinting of Urine Cell Sediments in Bladder Cancer

Background: Bladder cancer shows frequent nonrandom allelic deletion at various chromosomal regions. Genotypic detection methods could potentially identify patients at risk for recurrent progress...

Per C. M. Larsson MD, PhD, Ben Beheshti BSc, PhD Candidate… in Molecular Diagnosis (2001)

Article

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PL...

Yi Yang, Afif Hentati, Han-**ang Deng, Omar Dabbagh, Toru Sasaki… in Nature Genetics (2001)

Article

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified ...

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle, Jason E. Stajich… in Nature Genetics (2002)

Article

Pemphigus is not associated with allotypic markers of immunoglobulin kappa

The kappa light chain constant region of immunoglobulins bears polymorphic markers involved in susceptibility to various autoimmune diseases. To determine whether it also contributes to the occurrence of pemph...

M Zitouni, P Martel, M Ben Ayed, G Raux, D Gilbert, P Joly, I Mokhtar… in Genes & Immunity (2002)

Article

Erosion of the telomeric single-strand overhang at replicative senescence

Cultured primary human cells inevitably enter a state of replicative senescence for which the specific molecular trigger is unknown. We show that the single-strand telomeric overhang, a key component of telome...

Sheila A. Stewart, Ittai Ben-Porath, Vincent J. Carey… in Nature Genetics (2003)

Article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, m...

Vera M Kalscheuer, Kristine Freude, Luciana Musante, Lars R Jensen… in Nature Genetics (2003)

Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlap** microdeletion on chromosome 8q12 identified by array comparative ...

Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal… in Nature Genetics (2004)

Article

X-linked mental retardation

Chapter

Use of Micro Array Data via Model-based Classification in the Study and Prediction of Survival from Lung Cancer

We applied a model-based clustering approach to classify tumor tissues on the basis of microarray gene expression. The impact of this classification on cancer biology and clinical outcome was studied. In parti...

Liat Ben-Tovim Jones, Shu-Kay Ng… in Methods of Microarray Data Analysis (2005)

Article

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental re...

Martin Zenker, Julia Mayerle, Markus M Lerch, Andreas Tagariello… in Nature Genetics (2005)