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searching for Smith–Magenis syndrome 12 found (66 total)

COP9 signalosome complex subunit 3 (1,000 words) [view diff] exact match in snippet view article find links to article

complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Signalosome GRCh38: Ensembl release 89:

SMCR7L (596 words) [view diff] exact match in snippet view article find links to article

(MID51) also known as mitochondrial elongation factor 1 (MIEF1) or Smith-Magenis syndrome chromosome region candidate gene 7 protein-like (SMCR7L) is a protein

FLII (1,051 words) [view diff] exact match in snippet view article find links to article

organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. FLII has been shown to interact with LRRFIP1

LRRC48 (514 words) [view diff] exact match in snippet view article find links to article

Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic

TOM1L2 (635 words) [view diff] exact match in snippet view article find links to article

"Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and

COTL1 (991 words) [view diff] exact match in snippet view article find links to article

chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site

TOP3A (1,648 words) [view diff] exact match in snippet view article find links to article

Patel PI (Jan 1998). "Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation

Mitochondrial dynamics protein MID49 (1,000 words) [view diff] exact match in snippet view article find links to article

(Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple

60S ribosomal protein L13 (1,050 words) [view diff] exact match in snippet view article find links to article

K, Nowaczyk MJ, Inoue K, Lupski JR (2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic

Nitric oxide synthase 2 (inducible) (621 words) [view diff] exact match in snippet view article

humans and mice. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results

Adenosine A2B receptor (2,090 words) [view diff] exact match in snippet view article find links to article

which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. Research into selective A2B ligands has

RASD1 (2,332 words) [view diff] exact match in snippet view article find links to article

Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic