Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2005 1
2006 3
2007 1
2008 1
2010 4
2011 2
2012 2
2013 3
2014 1
2015 2
2016 2
2017 1
2019 2
2020 2
2021 4
2022 7
2023 4
2024 4
2025 10
2026 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

53 results

Results by year

Filters applied: . Clear all
Page 1
vwa1 Knockout in Zebrafish Causes Abnormal Craniofacial Chondrogenesis by Regulating FGF Pathway.
Niu X, Zhang F, Ping L, Wang Y, Zhang B, Wang J, Chen X. Niu X, et al. Genes (Basel). 2023 Mar 30;14(4):838. doi: 10.3390/genes14040838. Genes (Basel). 2023. PMID: 37107596 Free PMC article.
However, how the VWA1 mutation relates to the pathogenesis of HFM is largely unknown. Here, we sought to elucidate the effects of the VWA1 mutation at the molecular level by generating a vwa1-knockout zebrafish line using CRISPR/Cas9. ...Expression of FGF pat …
However, how the VWA1 mutation relates to the pathogenesis of HFM is largely unknown. Here, we sought to elucidate the effects of the …
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
Importantly, VWA1-related pathology may mimic various neuromuscular conditions, advocating for its inclusion in diverse gene panels spanning hereditary neuropathies to muscular dystrophies. The study highlights the potential of lower quality control filters in exome analys …
Importantly, VWA1-related pathology may mimic various neuromuscular conditions, advocating for its inclusion in diverse gene panels s …
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Deschauer M, et al. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418. Brain. 2021. PMID: 33459760
The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with collagen VI and perlecan, two proteins that are affected in hereditary neuromuscular disorders. Lack of …
The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and …
Vwa1 Knockdown Causes Craniofacial Defects via Loss of Kdm6b Function.
Wang Y, Zhao J, Zhang R, Li T, Yang W, Liu J. Wang Y, et al. FASEB J. 2025 Nov 15;39(21):e71111. doi: 10.1096/fj.202501160RR. FASEB J. 2025. PMID: 41196123
Our previous study linked a point mutation in VWA1 to the development of hemifacial microsomia. This study aims to elucidate the molecular mechanism of VWA1 in craniofacial development. ...Importantly, overexpression of Kdm6b or Runx2 rescued the osteogenic differen …
Our previous study linked a point mutation in VWA1 to the development of hemifacial microsomia. This study aims to elucidate the mole …
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
Athamneh M, Daya N, Hentschel A, Gangfuss A, Ruck T, Marina AD, Schara-Schmidt U, Sickmann A, Güttsches AK, Deschauer M, Preusse C, Vorgerd M, Roos A. Athamneh M, et al. J Cell Mol Med. 2024 Apr;28(8):e18122. doi: 10.1111/jcmm.18122. J Cell Mol Med. 2024. PMID: 38652110 Free PMC article.
Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. ...CRP elevated in plasma also showed an increase in th …
Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM) …
Hereditary motor neuropathies.
Frasquet M, Sevilla T. Frasquet M, et al. Curr Opin Neurol. 2022 Oct 1;35(5):562-570. doi: 10.1097/WCO.0000000000001087. Epub 2022 Aug 8. Curr Opin Neurol. 2022. PMID: 35942667 Review.
Thanks to international cooperation between researchers, new genes have been implicated in dHMN, such as SORD and VWA1 . Mutations in SORD are the most frequent cause of autosomal recessive forms of dHMN. ...
Thanks to international cooperation between researchers, new genes have been implicated in dHMN, such as SORD and VWA1 . Mutations in …
Roles of VWA1 and Rac2 in compensatory and decompensatory responses via FGF9/FGFR3 and p38 MAPK signaling pathways in condylar chondrocytes under distinct mechanical stress.
Liu Y, Jia F, Li K, Liang C, Li Y, Geng W. Liu Y, et al. Arthritis Res Ther. 2025 May 31;27(1):118. doi: 10.1186/s13075-025-03579-8. Arthritis Res Ther. 2025. PMID: 40450276 Free PMC article.
Further validation revealed that Vwa1 silencing attenuated compensatory responses under 6% CTS, while exogenous FGF9 restored them. Conversely, Vwa1 overexpression mitigated decompensation under 18% CTS, an effect nullified by FGFR3 inhibition. ...
Further validation revealed that Vwa1 silencing attenuated compensatory responses under 6% CTS, while exogenous FGF9 restored them. C …
Single-cell atlas of human pancreatic islet and acinar endothelial cells in health and diabetes.
Craig-Schapiro R, Li G, Chen K, Gomez-Salinero JM, Nachman R, Kopacz A, Schreiner R, Chen X, Zhou Q, Rafii S, Redmond D. Craig-Schapiro R, et al. Nat Commun. 2025 Feb 6;16(1):1338. doi: 10.1038/s41467-024-55415-3. Nat Commun. 2025. PMID: 39915484 Free PMC article.
Comparative expression and immunohistochemistry indicate disruption of endothelial-expressed CD74, ESM1, PLVAP, THBD, VWA1, and VEGF-A cross-talk among vascular and other cell types in diabetes. Thus, our data provide a single-cell vascular atlas of human pancreas, enablin …
Comparative expression and immunohistochemistry indicate disruption of endothelial-expressed CD74, ESM1, PLVAP, THBD, VWA1, and VEGF- …
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. ...In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexpl …
Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously bee …
Investigation of binding mechanism for human plasminogen Kringle 5 with its potential receptor vWA1 domain in Cochlin by bio-specific technologies and molecular dynamic simulation.
Zhang J, Wang Z, Wang J, Zhang R, Dong X, Bian L. Zhang J, et al. Bioorg Chem. 2022 Oct;127:105989. doi: 10.1016/j.bioorg.2022.105989. Epub 2022 Jun 27. Bioorg Chem. 2022. PMID: 35777236
The MDS results showed that the binding was mainly driven by electrostatic and Van der Waals forces and occurred spontaneously, during which vWA1 and Kringle 5 mutually fit each other by conformational changing into more flexible and suitable structures including fluctuati …
The MDS results showed that the binding was mainly driven by electrostatic and Van der Waals forces and occurred spontaneously, during which …
53 results