Search Results: ACTB

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Beta-actin
Senin, 2026-06-22 23:32:57

Beta-actin, or Actin beta (HUGO Gene Nomenclature Committee abbreviation ACTB/ACTB) is one of six different actin isoforms which have been identified in...

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Fryns–Aftimos syndrome
Sabtu, 2026-08-01 22:43:01

disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion...

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Microphthalmia
Minggu, 2026-05-10 07:07:18

have been implicated in microphthalmia, anophthalmia, and coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19 COX7B CRIM1...

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List of genetic disorders
Rabu, 2026-07-29 03:02:35

ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 Juvenile-onset dystonia ACTB, IMPDH2 dominant Juvenile primary lateral sclerosis (JPLS) ALS2 Keloid disorder...

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Actin
Senin, 2026-08-10 15:26:13

possess six different actin genes. Of these, two code for the cytoskeleton (ACTB and ACTG1) while the other four are involved in skeletal striated muscle...

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Syndromic microphthalmia
Minggu, 2026-05-10 07:14:52

Alkuraya–Kucinskas syndrome (ALKKCUS) MAF AD Aymé–Gripp syndrome (AYGRP) ACTB AD Fryns–Aftimos syndrome, Baraitser–Winter syndrome 1 (BRWS1) ACTG1 AD Baraitser–Winter...

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Navitas Limited
Selasa, 2026-06-16 13:50:46

Wilfrid Laurier University". www.wlu.ca. Retrieved 17 May 2021. "Home". ACTB. Retrieved 17 May 2021. "Murdoch University Dubai – Home". www.murdochuniversitydubai...

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RNA-binding protein
Minggu, 2026-08-16 09:38:41

"Beta-actin" : Structure of the ACTB protein....

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Actin, alpha skeletal muscle
Rabu, 2025-07-16 04:20:44

fiber-type disproportion (CFTD); Myopathy, scapulohumeroperoneal (SHPM). Actin ACTB GRCh38: Ensembl release 89: ENSG00000143632 – Ensembl, May 2017 GRCm38: Ensembl...

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Ciliopathy
Kamis, 2026-07-02 04:01:27

213980 TMCO1 Cerebrofrontofacial syndrome (Baraitser–Winter syndrome) 243310 ACTB Cerebrooculonasal syndrome 605627 Autosomal recessive spastic ataxia of Charlevoix-Saguenay...

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Proline and serine-rich protein 2
Jumat, 2026-07-24 23:52:18

PROSER2 interacts with several other proteins including: STK24, ESR2, POT1, ACTB, and EPS8. These interacting proteins are involved in control of apoptosis...

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Juvenile-onset dystonia
Sabtu, 2025-07-19 23:32:17

disorder is at least partly genetic Autosomal dominant mutations in the ACTB gene sometimes are the underlying cause of familial cases of juvenile-onset...

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Actin, cytoplasmic 2
Rabu, 2025-07-16 23:13:18

ME, Pilz DT, Dobyns WB (Apr 2012). "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome". Nature Genetics. 44 (4): 440–4...

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Periostin
Senin, 2026-06-29 22:41:54

Table: Periostin expression in various cancer cell lines. 1 (cDNA POSTN/cDNA ACTB) × 104 GRCh38: Ensembl release 89: ENSG00000133110 – Ensembl, May 2017 GRCm38:...

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TATA box
Minggu, 2026-06-14 20:58:03

activation by SRF-dependent upstream activating sequence (UAS) of the human ACTB gene involved in TATA-binding. Pharmaceutical companies have been designing...

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List of human protein-coding genes 1
Sabtu, 2026-08-15 12:55:46

HGNC:24723; Q9H6R3 204 ACTA1 HGNC:129; P68133 205 ACTA2 HGNC:130; P62736 206 ACTB HGNC:132; P60709 207 ACTBL2 HGNC:17780; Q562R1 208 ACTC1 HGNC:143; P68032...

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RA3 multiple unit
Selasa, 2026-08-18 21:34:16

"Новые составы отправятся в Томари уже 3 декабря". astv.ru (in Russian). ACTB. 2020-12-02. Archived from the original on 2021-02-06. Retrieved 2026-07-15...

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Epigenetic regulation of neurogenesis
Kamis, 2026-08-20 06:21:04

versus the wild type (WT) have shown that specific gene loci (Drd2, Penk1, Actb, and Grin1) decrease in histone acetylation levels, suggesting that a mutation...

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SOGA2
Senin, 2026-08-10 21:46:11

protein kinase A binding proteins. The 540 interacting proteins include ABCF1, ACTB, ACTL6A, BCLAF1, BCLAF1, CHEK1, and MAGEE2. K-nearest neighbor analysis by...

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List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31

without hyperphenylalainemia; 233910; GCH1 Dystonia, juvenile-onset; 607371; ACTB Dystonia, myoclonic; 159900; DRD2 Dystonia-1, torsion; 128100; DYT1 Dystonia-11...

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