| Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D., Free PMC Article | 03/30/2023 |
| Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer. | Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer.
Fu G, Pei Z, Song N. | 04/2/2022 |
| Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation. | Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
Malakootian M, Jalilian M, Kalayinia S, Hosseini Moghadam M, Heidarali M, Haghjoo M., Free PMC Article | 03/12/2022 |
| DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFbeta1 and P53 signaling. | DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFβ1 and P53 signaling.
Hu ZG, Zhang S, Chen YB, Cao W, Zhou ZY, Zhang JN, Gao G, He SQ. | 10/3/2020 |
| Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family. | Barth syndrome associated with triple mutation.
Tsujii N, Hayashi T, Hayashi T, Kimura A, Nishikubo T. | 09/15/2018 |
| we show for the first time localization of alpha-DB2 in nucleoli and Cajal bodies and provide evidence that a-DB2 is involved in the structure of nucleoli and might modulate nucleolar functions | Localization of α-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for α-Dystrobrevin in the Structure/Stability of the Nucleolus.
Hernández-Ibarra JA, Laredo-Cisneros MS, Mondragón-González R, Santamaría-Guayasamín N, Cisneros B. | 08/13/2016 |
| our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD. | Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA., Free PMC Article | 09/26/2015 |
| Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology. | Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
Na I, Redmon D, Kopa M, Qin Y, Xue B, Uversky VN., Free PMC Article | 04/5/2014 |
| apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure. | Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis.
Navakauskienė R, Treigytė G, Borutinskaitė VV, Matuzevičius D, Navakauskas D, Magnusson KE. | 10/6/2012 |
| Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins. | α-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation.
Borutinskaite VV, Magnusson KE, Navakauskiene R. | 10/22/2011 |
| Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome. | Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome.
Lyssand JS, Whiting JL, Lee KS, Kastl R, Wacker JL, Bruchas MR, Miyatake M, Langeberg LK, Chavkin C, Scott JD, Gardner RG, Adams ME, Hague C., Free PMC Article | 05/14/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Fundamental functional differences between the alpha-dystrobrevins of mice and humans raises questions about the use of the mouse as a model animal for Duchenne muscular dystrophy. | Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.
Böhm SV, Constantinou P, Tan S, Jin H, Roberts RG., Free PMC Article | 01/21/2010 |
| Dystrobrevin mRNA including exons 11A and 12 was increased in both skeletal and cardiac muscle of DM1 patients. The aberrantly spliced alpha-dystrobrevin isoform was localized to the sarcolemma. | Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1.
Nakamori M, Kimura T, Kubota T, Matsumura T, Sumi H, Fujimura H, Takahashi MP, Sakoda S. | 01/21/2010 |
| During a cycle of regeneration in tibialis anterior muscle following myonecrosis, alpha-dystrobrevin reaches 50% of the protein level on day 28 by 6.6 days, regenerating more slowly than dystrophin. | The expression of alpha-dystrobrevin and dystrophin during skeletal muscle regeneration.
Hoshino S, Ohkoshi N, Ishii A, Shoji S. | 01/21/2010 |
| patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year, and patients with deficiency of alpha-DNT had congenital muscular dystrophy with complete external ophthalmoplegia. | Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN. | 01/21/2010 |
| alpha-dystrobrevin and its splice isoforms have a role in signal transduction in myeloid cells during induction of granulocytic differentiation and/or at the commitment stage of differentiation or phagocytic cells | Characterization of human alpha-dystrobrevin isoforms in HL-60 human promyelocytic leukemia cells undergoing granulocytic differentiation.
Kulyte A, Navakauskiene R, Treigyte G, Gineitis A, Bergman T, Magnusson KE., Free PMC Article | 01/21/2010 |
| Results confirm that dystrophin is required for anchorage of the syntrophin-dystrobrevin subcomplex and suggest that expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission. | The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.
Compton AG, Cooper ST, Hill PM, Yang N, Froehner SC, North KN. | 01/21/2010 |
| findings suggest that a-dystrobrevin specifically is associated with the tight junctions during their reorganization | Association of alpha-dystrobrevin with reorganizing tight junctions.
Sjö A, Magnusson KE, Peterson KH. | 01/21/2010 |
| Transgenic expression of either isoform of alpha-dystrobrevin prevented muscle fiber degeneration in knockout mice; however, only alphaDB1 corrected defects at neuromuscular and musculotendinous junctions. | Tyrosine-phosphorylated and nonphosphorylated isoforms of alpha-dystrobrevin: roles in skeletal muscle and its neuromuscular and myotendinous junctions.
Grady RM, Akaaboune M, Cohen AL, Maimone MM, Lichtman JW, Sanes JR., Free PMC Article | 01/21/2010 |