Results 241 to 250 of about 2,703,511 (280)

Association of ID polymorphism of the CASP8 gene with vibration disease

Russian Journal of Occupational Health and Industrial Ecology, 2022
Introduction. The study of the contribution of molecular genetic markers to the formation of occupational diseases is currently an urgent direction in occupational health. It is considered proven that the development and course of occupational diseases depends not only on the occupational risk, but also on the individual characteristics of the body of ...
Elena L. Smirnova, Elena L. Poteryaeva, Anastasiya A. Ivanova, Vladimir N. Maksimov, Inna S. Funtikova, Irina A. Nesina   +5 more
openaire   +1 more source

X-Linked ASDs and ID Gene Mutations

2016
Intellectual disability (ID) defines a group of disorders that cause impairment in intellectual performance. Autism spectrum disorders (ASDs) cause deficits in communication and social skills in addition to repetitive and stereotyped behaviors. We focus our attention on IDs and ASDs caused by mutations within the X chromosome on genes that exert their ...
Moretto E, Passafaro M, Bassani S
openaire   +3 more sources

Structural organisation and chromosomal mapping of the human Id-3 gene

Gene, 1994
The helix-loop-helix (HLH) family of transcription factors plays a central role in the regulation of cell growth, differentiation and tumourigenesis. Members of the Id (inhibitor of DNA binding) class of these nuclear proteins are able to heterodimerise with and thereby antagonise the functions of other transcription factors of this family.
R W, Deed, T, Hirose, E L, Mitchell, M F, Santibanez-Koref, J D, Norton   +4 more
openaire   +2 more sources

Identifier (ID) elements are not preferentially located to brain-specific genes: High ID element representation in other tissue-specific- and housekeeping genes of the rat

Gene, 2014
BC1 is a short non-coding RNA from rodents, which is transcribed by RNA pol III. Its RNA is highly abundant in the brain, where it exerts a post-transcriptional regulatory role in dendrites. Upon transcription, retroposition and insertion, BC1 gives rise to a subclass of short interspersed repetitive sequences (SINEs) named identifier (ID) elements ...
Andrés, Goldman, Carlos A, Capoano, Evangelina, González-López, Adriana, Geisinger   +3 more
openaire   +2 more sources

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Human Molecular Genetics, 1995
We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome.
M L, Bondeson, N, Dahl, H, Malmgren, W J, Kleijer, T, Tönnesen, B M, Carlberg, U, Pettersson   +6 more
openaire   +2 more sources

Expression of ID Family Genes in the Synovia from Patients with Rheumatoid Arthritis

Biochemical and Biophysical Research Communications, 2001
Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by aggressive proliferation of synovial tissue leading to destruction of cartilage and bone. To identify molecules which play a crucial role for the pathogenesis, we compared mRNA expression pattern of RA synovium with that of osteoarthritis (OA), using the differential display ...
D, Sakurai, A, Yamaguchi, N, Tsuchiya, K, Yamamoto, K, Tokunaga   +4 more
openaire   +2 more sources

Combined risk effects of IDE and NEP gene variants on Alzheimer disease

Journal of Neurology, Neurosurgery & Psychiatry, 2009
Polymorphisms in genes encoding amyloid beta-peptide (A beta)-degrading enzymes neprilysin (NEP) and insulin-degrading enzyme (IDE) individually affect the susceptibility to Alzheimer disease (AD) among the Finnish population. Here we show that a combination of risk genotypes for NEP and IDE genes leads to a higher susceptibility to AD.
S, Vepsäläinen, S, Helisalmi, A, Mannermaa, T, Pirttilä, H, Soininen, M, Hiltunen   +5 more
openaire   +2 more sources

Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).

Human genetics, 2006
We report here the first exonic splicing mutation in a 8-year old intermediate Hunter patient. Genomic DNA sequencing identified a G to C transversion involving the last nucleotide of IDS exon VI (ExVI 1003G>C). The mutation leads to the disappearance of the normal exon VI/intron 6 splice donor site, resulting in the skipping of a 28 bp fragment of ...
Villani GR, Pontarelli G, Kotroni G, PARENTI, GIANCARLO, Sibilio M, ANDRIA, GENEROSO, DI NATALE, PAOLA   +6 more
openaire   +4 more sources

ID sequences in the genes of three brain-specific proteins.

Biochemistry international, 1988
We characterized the brain-specific gene coding for rat S-100 protein beta-subunit and found three "brain identifier (ID)" elements, which have been proposed to regulate the gene expression in rat brain. The nucleotide sequences of these elements corresponded well with that of the consensus ID element and were clearly different from those of "ID-like ...
H, Usui, R, Kuwano, T, Maeda, K, Araki, K, Sakimura, E, Kushiya, Y, Takahashi   +6 more
openaire   +1 more source

Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions

Clinical Chemistry, 2021
Tahir Pillay
exaly