Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Autor: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are

Externí odkaz: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Autor: Ranjay, Jayadev, Mychel R P T, Morais, Jamie M, Ellingford, Sandhya, Srinivasan, Richard W, Naylor, Craig, Lawless, Anna S, Li, Jack F, Ingham, Eric, Hastie, Qiuyi, Chi, Maryline, Fresquet, Nikki-Maria, Koudis, Huw B, Thomas, Raymond T, O'Keefe, Emily, Williams, Antony, Adamson, Helen M, Stuart, Siddharth, Banka, Damian, Smedley, David R, Sherwood, Rachel, Lennon

Publikováno v: Genomics England Research Consortium 2022, ' A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations ', Science Advances, vol. 8, no. 20, eabn2265 . https://doi.org/10.1126/sciadv.abn2265

Basement membranes (BMs) are ubiquitous extracellular matrices whose composition remains elusive, limiting our understanding of BM regulation and function. By developing a bioinformatic and in vivo discovery pipeline, we define a network of 222 human

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d51eaf7f96020b423d4c6daee051185
https://doi.org/10.1126/sciadv.abn2265

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

Autor: Sangeet Sidhu, J. Robert Harkness, John A. Sayer, Katherine A. Wood, Helen M. Stuart, Keng Wee Teik, Heather J. Cordell, Huw B. Thomas, Adrian S. Woolf, Glenda M. Beaman, William G. Newman

Publikováno v: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Kidney International Reports

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb53ea7eda8248cbf33f6b1fa8c7178e
http://www.sciencedirect.com/science/article/pii/S2468024920313644

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

Autor: Adrian S. Woolf, William G. Newman, Ali Aishah, Katherine A. Wood, Raymond T. O'Keefe, Jill E. Urquhart, Glenda M. Beaman, Sanjeev S. Bhaskar, Gabriella Galatà, Helen M. Stuart, Keng Wee Teik, James O'Sullivan, Huw B. Thomas

Publikováno v: Clinical Genetics
Beaman, G M, Galatà, G, Teik, K W, Urquhart, J E, Aishah, A, O'Sullivan, J, Bhaskar, S S, Wood, K A, Thomas, H B, O'Keefe, R T, Woolf, A S, Stuart, H M & Newman, W G 2019, ' A homozygous missense variant in CHRM3 associated with familial urinary bladder disease ', Clinical Genetics, vol. 96, no. 6, pp. 515-520 . https://doi.org/10.1111/cge.13631

CHRM3 codes for the M3 muscarinic acetylcholine receptor that is located on the surface of smooth muscle cells of the detrusor, the muscle that effects urinary voiding. Previously, we reported brothers in a family affected by a congenital prune belly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816e687d55f722ed4cd6649518ce83a2
http://europepmc.org/articles/PMC6899476

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Autor: George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith

Publikováno v: Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303

PurposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdf