Exons - Genetics
Research News and Information

Sunday, November 22, 2009

Fam83h is associated with intracellular vesicles and ADHCAI.

30 Oct 2009 Defects in FAM83H on human chromosome 8q24.3 cause autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI). FAM83H does not encode a recognizable signal peptide, so we predicted that the Fam83h protein functions within the cell. We tested ... Read more...

Rates of in situ transcription and splicing in large human genes.

9 Oct 2009 Transcription and splicing must proceed over genomic distances of hundreds of kilobases in many human genes. However, the rates and mechanisms of these processes are poorly understood. We have used the compound 5,6-dichlorobenzimidazole ... Read more...

Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population.

29 Sep 2009 INTRODUCTION: Craniofacial morphology has a significant genetic component. It has recently been reported that single nucleotide polymorphisms (SNPs) in the growth hormone receptor gene (GHR) are associated with mandibular height. To confirm these ... Read more...

Latest indexed articles for 'Exons - Genetics'

These are the very latest articles for this heading:

• Tracking rates of transcription and splicing in vivo. 30 Oct 2009
• Fam83h is associated with intracellular vesicles and ADHCAI. 30 Oct 2009
• Rates of in situ transcription and splicing in large human genes. 9 Oct 2009
• Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. 29 Sep 2009
• Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. 29 Sep 2009
• Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma. 17 Sep 2009
• Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 16 Sep 2009
• Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability. 13 Sep 2009
• Blimp-1/Prdm1 alternative promoter usage during mouse development and plasma cell differentiation. 6 Sep 2009
• Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti. 30 Aug 2009
• Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. 30 Aug 2009
• Generation of human PTH1R construct with FLAG epitope located internally: comparison of two-fragment assembly by using PCR overlap extension or ligase. 30 Aug 2009
• Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations. 30 Aug 2009
• IL-10 production by B cells expressing CD5 with the alternative exon 1B. 30 Aug 2009
• Comparative characterization of a temperature responsive gene (lactate dehydrogenase-B, ldh-b) in two congeneric tropical fish, Lates calcarifer and Lates niloticus. 30 Aug 2009
• Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy. 30 Aug 2009
• Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia. 30 Aug 2009
• Ethylnitrosourea-induced thymus-defective mutants identify roles of KIAA1440, TRRAP, and SKIV2L2 in teleost organ development. 30 Aug 2009
• Group I-intron trans-splicing and mRNA editing in the mitochondria of placozoan animals. 25 Aug 2009
• Characterization of three novel beta-defensin antimicrobial peptides in rainbow trout (Oncorhynchus mykiss). 24 Aug 2009

See a longer list of these articles.

Technical information about 'Exons'

Definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or structural RNA.

Descriptor UI: D005091

Alternative terms: Exons; Exon; Mini-Exon; Mini Exon; Mini-Exons;

Allowable Qualifiers: drug effects; genetics; immunology; physiology; radiation effects; ethics;

Tree Number: G05.360.340.024.340.137.232;

Online Note: search BASE SEQUENCE 1980-86

History Note: 87; was see BASE SEQUENCE 1980-86