A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

Article Abstract:

The identification of a candidate gene for neurofibromatosis 2 (NF2), a dominantly inherited disorder characterized by the occurrence of bilateral schwannomas and other central nervous system tumors such as multiple meningiomas, is reported. Previous studies have suggested the inactivation of a tumor suppressor gene in choromosome 22q12 as a potential cause of the disorder. The candidate NF2 gene encodes a 587-amino acid protein which is related to the membrane-organizing extension spike protein-ezrin-radixin family of proteins that link cytoskeletal proteins with proteins in the cell membrane.

Identification and classification, Tumor suppressor genes, Neurofibromatosis

---

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

Article Abstract:

The mucolipidosis type IV (MLIV) gene has been mapped to chromosome 19p using linkage analysis with 15 markers in 13 families, and this fact, with definition of founder haplotypes, is discussed. MLIV is a rare autosomal recessive disease and a lysosomal storage disorder involving severe neurologic and ophthalmologic abnormalities. The majority of those diagnosed with it so far are of Ashkenazi Jewish descent and genetic prenatal diagnosis will now be possible in affected families.

United States, Israel, Statistical Data Included, Usage, Abnormalities, Diseases, Chromosome mapping, Lysosomes, Neurology, Familial diseases, Ashkenazim

---

Disruption of neurexin 1 associated with autism spectrum disorder

Article Abstract:

Two independent subjects that display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3 are studied to implicate the neurexin 1 (NRXN1) gene. It is suggested that subtle changes in NRXN1 contribute to susceptibility to ASD.

Science & research, Health aspects, Autism, Chromosome abnormalities

Similar abstracts:

• Abstracts: Evaluation of a novel subtilisin inhibitor gene and mutant derivatives for the expresion and secretion of mouse tumor necrosis factor alpha by Streptomyces lividans
• Abstracts: Control of intrinsic transcription termination by N and NusA: the basic mechanisms. Bacillus subtilis glutamine synthetase controls gene expression through a protein-protein interaction with transcription factor TnrA
• Abstracts: A chemosensory gene family encoding candidate gustatory and olfactory receptors in Drosophila. X inactivation of the OCNC1 channel gene reveals a role for activity-dependent competition in the olfactory system
• Abstracts: A zebrafish nanos-related gene is essential for the development of primordial germ cells. Noggin1 and Follistatin-like2 function redundantly to Chordin to antagonize BMP activity
• Abstracts: Analysis of cumene (isopropylbenzene) degradation genes from Pseudomonas fluorescens IP01. Accumulation of polyhydroxyalkanoic acid containing large amounts of unsaturated monomers in Pseudomonas fluorescens BM07 utilizing saccharides and its inhibition by 2-bromooctanoic acid

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.