| The DST gene in neurobiology. | The DST gene in neurobiology.
Lalonde R, Strazielle C. | 03/15/2024 |
| DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. | DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri Y, Bourmance L, Dupont C, Saint-Frison MH, Guimiot F, Grotto S, Chitrit Y, Laquerrière A, Melki J. | 10/4/2023 |
| What's new in the pathogeneses and triggering factors of bullous pemphigoid. | What's new in the pathogeneses and triggering factors of bullous pemphigoid.
Ujiie H., Free PMC Article | 02/13/2023 |
| Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). | Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L, Vahidnezhad H, Uitto J. | 09/3/2022 |
| Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. | Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.
Ganani D, Malovitski K, Sarig O, Gat A, Sprecher E, Samuelov L. | 07/17/2021 |
| Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma. | Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma.
Wang H, Wang X, Xu L, Zhang J, Cao H., Free PMC Article | 07/3/2021 |
| Disruption of BP230 (BPAG1e)-integrin beta-4 (beta4) binding prevents recruitment of BP230 to hemidesmosomes in keratinocytes. | Integrin α6β4 Recognition of a Linear Motif of Bullous Pemphigoid Antigen BP230 Controls Its Recruitment to Hemidesmosomes.
Manso JA, Gómez-Hernández M, Carabias A, Alonso-García N, García-Rubio I, Kreft M, Sonnenberg A, de Pereda JM. | 05/2/2020 |
| novel biallelic mutations in the DST gene encoding dystonin, a large cytolinker protein of the plakin family, in an adult form of Hereditary sensory and autonomic neuropathies type VI, are reported. | Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Fortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati F. | 03/7/2020 |
| FLG and DST support melanoma cell growth in vitro and in vivo. Growth effects of JUP were only evident in vivo, and may be mediated, in part, by enhancing angiogenesis. In addition, growth-promoting effects of FLG and DST in vitro suggest that these genes may also support melanoma cell proliferation through angiogenesis-independent pathways. | The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis.
Leick KM, Rodriguez AB, Melssen MM, Benamar M, Lindsay RS, Eki R, Du KP, Parlak M, Abbas T, Engelhard VH, Slingluff CL Jr., Free PMC Article | 03/7/2020 |
| Our finding suggests that DST alteration may involve in the mechanism of diabetic dementia | Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis.
Cheng J, Liu HP, Hwang SL, Hsu LF, Lin WY, Tsai FJ. | 01/18/2020 |
| A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves | Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.
Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L., Free PMC Article | 07/29/2017 |
| dystonin and bullous pemphigoid antigen 1 are encoded by the same gene but are different proteins with different diseases [review] | One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.
Künzli K, Favre B, Chofflon M, Borradori L. | 01/14/2017 |
| Two of the six genes (LAMA3 and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events | Expression microarray analysis reveals alternative splicing of LAMA3 and DST genes in head and neck squamous cell carcinoma.
Li R, Ochs MF, Ahn SM, Hennessey P, Tan M, Soudry E, Gaykalova DA, Uemura M, Brait M, Shao C, Westra W, Bishop J, Fertig EJ, Califano JA., Free PMC Article | 12/19/2015 |
| Results identify four families with autosomal recessive EBS from Kuwait in whom the skin fragility is caused by recurrent nonsense mutation in DST-4. | Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. | 11/14/2015 |
| Circulating anti-BP230 autoantibodies are not correlated with severity of genital lichen sclerosis or itching. | Circulating anti-BP180 NC16a and anti-BP230 autoantibodies in patients with genital lichen sclerosus do not correlate with disease activity and pruritus.
Patsatsi A, Kyriakou A, Mantas A, Vavilis D, Patsialas C, Sotiriadis D. | 07/25/2015 |
| A key role for BPAG1-e in regulating keratinocyte adhesion and migration and suggest a requirement for this protein in controlling functional switching between integrin types in epithelial cells. | BPAG1-e restricts keratinocyte migration through control of adhesion stability.
Michael M, Begum R, Fong K, Pourreyrone C, South AP, McGrath JA, Parsons M. | 04/12/2014 |
| Authors conclude that, during entry of herpes simplex virus 1, dystonin has a specific role in plus-ended transport of capsids from the centrosome to the nucleus. | Dystonin/BPAG1 promotes plus-end-directed transport of herpes simplex virus 1 capsids on microtubules during entry.
McElwee M, Beilstein F, Labetoulle M, Rixon FJ, Pasdeloup D., Free PMC Article | 11/16/2013 |
| Mutations of the EF-hands of BPAG1n4 abolish calcium-dependent microtubule plus end dynamics. | Calcium tips the balance: a microtubule plus end to lattice binding switch operates in the carboxyl terminus of BPAG1n4.
Kapur M, Wang W, Maloney MT, Millan I, Lundin VF, Tran TA, Yang Y., Free PMC Article | 08/3/2013 |
| study identifies dystonin, a cytoskeleton cross-linker involved in microtubule-based transport, as a binding partner of the HSV-1 protein pUL37, implicated in capsid transport; study provides insight into cellular requirements for HSV-1 capsid transport and identifies dystonin as a nonmotor protein part of transport machinery | Herpesvirus tegument protein pUL37 interacts with dystonin/BPAG1 to promote capsid transport on microtubules during egress.
Pasdeloup D, McElwee M, Beilstein F, Labetoulle M, Rixon FJ., Free PMC Article | 04/27/2013 |
| There is a significantly enhanced ratio between the dynorphin A immunoreactive area and the whole area of the entopeduncular nucleus in genetically dystonic hamsters compared to controls. | Changes in dynorphin immunoreactivity but unaltered density of enkephalin immunoreactive neurons in basal ganglia nuclei of genetically dystonic hamsters.
Kreil A, Hamann M, Sander SE, Richter A. | 03/26/2013 |
| This is the first report of a defect in the neuronal isoform of dystonin in humans. | Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O. | 06/9/2012 |
| in motile cells Col XVII recruits BPAG1e to alpha6beta4 integrin and is necessary for activation of signaling pathways, motile behavior, and lamellipodial stability. | Type XVII collagen regulates lamellipod stability, cell motility, and signaling to Rac1 by targeting bullous pemphigoid antigen 1e to alpha6beta4 integrin.
Hamill KJ, Hopkinson SB, Jonkman MF, Jones JC., Free PMC Article | 10/1/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. | 12/5/2010 |
| Bullous pemphigoid antigen 1 (BPAG1) was identified as a melanoma antigen recognized by its auto-antibody. | Serum anti-BPAG1 auto-antibody is a novel marker for human melanoma.
Shimbo T, Tanemura A, Yamazaki T, Tamai K, Katayama I, Kaneda Y., Free PMC Article | 09/13/2010 |
| 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 |