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Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01017-1
By:
- Clayton, Joshua S.;
- McNamara, Elyshia L.;
- Goullee, Hayley;
- Conijn, Stefan;
- Muthsam, Keren;
- Musk, Gabrielle C.;
- Coote, David;
- Kijas, James;
- Testa, Alison C.;
- Taylor, Rhonda L.;
- O'Hara, Amanda J.;
- Groth, David;
- Ottenheijm, Coen;
- Ravenscroft, Gianina;
- Laing, Nigel G.;
- Nowak, Kristen J.
Publication type:
Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Published in:
2022
By:
- Cabrera-Serrano, Macarena;
- Caccavelli, Laure;
- Savarese, Marco;
- Vihola, Anna;
- Jokela, Manu;
- Johari, Mridul;
- Capiod, Thierry;
- Madrange, Marine;
- Bugiardini, Enrico;
- Brady, Stefen;
- Quinlivan, Rosaline;
- Merve, Ashirwad;
- Scalco, Renata;
- Hilton-Jones, David;
- Houlden, Henry;
- Aydin, Halil Ibrahim;
- Ceylaner, Serdar;
- Drewes, Sarah;
- Vockley, Jerry;
- Taylor, Rhonda L
Publication type:
journal article
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.901747
By:
- Cheng, Jessica;
- Clayton, Joshua S.;
- Acemel, Rafael D.;
- Zheng, Ye;
- Taylor, Rhonda L.;
- Keleş, Sündüz;
- Franke, Martin;
- Boackle, Susan A.;
- Harley, John B.;
- Quail, Elizabeth;
- Gómez-Skarmeta, José Luis;
- Ulgiati, Daniela
Publication type:
Article
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.
Published in:
Skeletal Muscle, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13395-021-00278-1
By:
- Goullée, Hayley;
- Taylor, Rhonda L.;
- Forrest, Alistair R. R.;
- Laing, Nigel G.;
- Ravenscroft, Gianina;
- Clayton, Joshua S.
Publication type:
Article
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
By:
- Laitila, Jenni M.;
- McNamara, Elyshia L.;
- Wingate, Catherine D.;
- Goullee, Hayley;
- Ross, Jacob A.;
- Taylor, Rhonda L.;
- van der Pijl, Robbert;
- Griffiths, Lisa M.;
- Harries, Rachel;
- Ravenscroft, Gianina;
- Clayton, Joshua S.;
- Sewry, Caroline;
- Lawlor, Michael W.;
- Ottenheijm, Coen A. C.;
- Bakker, Anthony J.;
- Ochala, Julien;
- Laing, Nigel G.;
- Wallgren-Pettersson, Carina;
- Pelin, Katarina;
- Nowak, Kristen J.
Publication type:
Article
Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.
Published in:
G3: Genes | Genomes | Genetics, 2017, v. 7, n. 9, p. 2999, doi. 10.1534/g3.117.044651
By:
- Boutilier, Jordan K.;
- Taylor, Rhonda L.;
- Mann, Tracy;
- McNamara, Elyshia;
- Hoffman, Gary J.;
- Kenny, Jacob;
- Dilley, Rodney J.;
- Henry, Peter;
- Morahan, Grant;
- Laing, Nigel G.;
- Nowak, Kristen J.
Publication type:
Article
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 7, p. 1127, doi. 10.1093/hmg/ddac272
By:
- Dofash, Lein N H;
- Monahan, Gavin V;
- Servián-Morilla, Emilia;
- Rivas, Eloy;
- Faiz, Fathimath;
- Sullivan, Patricia;
- Oates, Emily;
- Clayton, Joshua;
- Taylor, Rhonda L;
- Davis, Mark R;
- Beilharz, Traude;
- Laing, Nigel G;
- Cabrera-Serrano, Macarena;
- Ravenscroft, Gianina
Publication type:
Article
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 1, p. 20, doi. 10.1093/hmg/ddz214
By:
- McNamara, Elyshia L;
- Taylor, Rhonda L;
- Clayton, Joshua S;
- Goullee, Hayley;
- Dilworth, Kimberley L;
- Pinós, Tomàs;
- Brull, Astrid;
- Alexander, Ian E;
- Lisowski, Leszek;
- Ravenscroft, Gianina;
- Laing, Nigel G;
- Nowak, Kristen J
Publication type:
Article
An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6496088
By:
- Clayton, Joshua S.;
- Johari, Mridul;
- Taylor, Rhonda L.;
- Dofash, Lein;
- Allan, Georgina;
- Monahan, Gavin;
- Houweling, Peter J.;
- Ravenscroft, Gianina;
- Laing, Nigel G.;
- Aziz, Aziz ur Rehman
Publication type:
Article

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