Search Results: SYNE1
Redirect to:
This page is a redirect. The following categories are used to track and monitor this redirect:
|
Enaptin
Kamis, 2025-07-17 00:13:34(syne-1) is an actin-binding protein that in humans that is encoded by the SYNE1 gene. This gene encodes a spectrin repeat containing protein expressed in...
Click to read more »Emery–Dreifuss muscular dystrophy
Jumat, 2026-07-31 02:16:37Jean-Pierre; Noreau, Anne; Rouleau, Guy A. (1 January 1993). "SYNE1 Deficiency". SYNE1-Related Autosomal Recessive Cerebellar Ataxia. University of Washington...
Click to read more »List of genetic disorders
Sabtu, 2026-08-22 09:03:12Emanuel syndrome 11, 22 partial trisomy Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43 Epidermolysis bullosa KRT5, KRT14, DSP, PKP1, JUP,...
Click to read more »SYNE2
Sabtu, 2025-10-11 22:19:59isoforms containing the KASH domain. This mechanism, which also occurs in SYNE1 mRNA encoding nesprin-1 (enaptin), generates deltaKASH1 isoforms terminating...
Click to read more »Nesprin
Selasa, 2025-05-27 10:28:56with the cell's ability to sense and respond to mechanical challenges. SYNE1 SYNE2 Spectrin repeat containing nuclear envelope family member 3 Zhang...
Click to read more »Oesophagogastric junctional adenocarcinoma
Selasa, 2026-08-04 23:35:52with similar predicted functional consequence in other tumour types. TP53, SYNE1, and ARID1A are among the most frequently mutated genes. Notably, up to...
Click to read more »List of human protein-coding genes 8
Senin, 2025-11-03 07:57:4216159 SYNDIG1 HGNC:15885; Q9H7V2 16160 SYNDIG1L HGNC:32388; A6NDD5 16161 SYNE1 HGNC:17089; Q8NF91 16162 SYNE2 HGNC:17084; Q8WXH0 16163 SYNE3 HGNC:19861;...
Click to read more »LINC complex
Kamis, 2025-11-06 18:06:15of the KASH family are the four nesprin proteins: nesprin -1 (encoded by SYNE1), nesprin -2 (encoded by SYNE2), nesprin -3 (encoded by SYNE3), and nesprin...
Click to read more »Calponin homology domain
Selasa, 2024-10-01 22:20:38SMTNL2, SPECC1, SPECC1L, SPNB4, SPTB, SPTBN1, SPTBN2, SPTBN4, SPTBN5, SYNE1, SYNE2, TAGLN, TAGLN2, TAGLN3, UTRN, and VAV1, VAV2, VAV3 PDB: 2RR8; Umemoto...
Click to read more »ADCY2
Selasa, 2025-07-22 19:25:29disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1". BMC Medical Genetics. 15 2. doi:10.1186/1471-2350-15-2. PMC 3901032...
Click to read more »Spectrin repeat
Jumat, 2025-04-25 11:30:25KALRN; MACF1; MCF2L; SPTA1; SPTAN1; SPTB; SPTBN1; SPTBN2; SPTBN4; SPTBN5; SYNE1; SYNE2; TRIO; UTRN; Pascual J, Pfuhl M, Walther D, Saraste M, Nilges M (October...
Click to read more »Autosomal recessive cerebellar ataxia type 1
Rabu, 2025-11-12 05:08:42of autosomal recessive cerebellar ataxia. ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje cells...
Click to read more »Papillary hidradenoma
Minggu, 2025-10-05 18:02:44signaling pathway. The mutated genes include PIK3CA, AKT1, PIK3CA, MAGI1, SYNE1, USP9X, KLNI (also termed CASC5), RNF213, FLCN, PDGFRB, AR (i.e. the androgen...
Click to read more »Emerin
Kamis, 2026-06-25 12:48:44interact with: ACTA1, ACTG2, BANF1, BCLAF1, CTNNB1, GMCL1, LMNA, PSME1, SYNE1, SYNE2, TMEM43, and YTHDC1. GRCh38: Ensembl release 89: ENSG00000102119...
Click to read more »Epigenetic therapy
Rabu, 2026-08-19 15:34:07While not an exhaustive list a few examples are NLGN4X, PAH, PEX7, and SYNE1. The heterogeneity of autism causes and symptoms has led to research in...
Click to read more »List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31Creveld syndrome; 225500; LBN Emery–Dreifuss muscular dystrophy 4; 612998; SYNE1 Emery–Dreifuss muscular dystrophy 5; 612999; SYNE2 Emery–Dreifuss muscular...
Click to read more »