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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Autor: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

Publikováno v: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both mal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

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A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

Autor: Katie Kerr, Caoimhe McKenna, Shirley Heggarty, Caitlin Bailie, Julie McMullan, Ashleen Crowe, Jill Kilner, Michael Donnelly, Saralynne Boyle, Gillian Rea, Cheryl Flanagan, Shane McKee, Amy Jayne McKnight

Publikováno v: Kerr, K, McKenna, C, Heggarty, S, Bailie, C, McMullan, J, Crowe, A, Kilner, J, Donnelly, M, Boyle, S, Rea, G, Flanagan, C, McKee, S & McKnight, A J 2022, ' A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland ', Genes, vol. 13, no. 7, 1104 . https://doi.org/10.3390/genes13071104
Genes; Volume 13; Issue 7; Pages: 1104

Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c84096f9702a54d0793746f6948720
https://pure.qub.ac.uk/en/publications/0e47a0dc-2a16-4013-b2ee-8dbdec5a5a08

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Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

Autor: Sahar Mansour, Sarah F. Smithson, Gillian Rea, Anna Zachariou, Philip J. Ostrowski, Edward Blair, Alison Foster, Sofia Douzgou, Katrina Tatton-Brown, Trevor Cole, Chey Loveday, Elizabeth Thompson, Swati Naik, Diana Baralle, Katherine Lachlan, Michael Field, Claire Kyle, Yves Sznajer

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:638-643

BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and two parti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfe7c413c5068e2840f8f3aeeba30517
https://doi.org/10.1002/ajmg.c.31750

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Autor: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M.B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, S.C. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

Publikováno v: Genetics in Medicine
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3

PurposeLamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies. Phenotypes r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c3afeb46142409f18e86e168fe778a

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Publikováno v: Neurology: Genetics

ObjectiveTo identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations.MethodsUsing next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96236b80c34f340bcedefc358c8b84b
http://hdl.handle.net/11567/1027127

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Elektronická kniha

My Revision Notes: CCEA GCSE Geography Second Edition

Autor: Gillian Rea, Jennifer Proudfoot

Set your students on track to achieve the best grade possible with My Revision Notes. Our updated approach to revision will help students learn, practise and apply their skills and understanding. Coverage of key content is combined with practical stu

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Unilateral leg swelling in an infant

Autor: Gillian Rea, Shilpa Shah, Sarah Berry, Laura Bingham

Publikováno v: Archives of disease in childhood - Education & practice edition. 105:94-96

An 8-month-old boy presented with a week’s history of left lower limb swelling. He was apyrexic, well and developmentally age appropriate. He was born at 35+5 via by C-section for breech presentation, weighing 3.47 kg (97th centile). His left calf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7132f90e101bb1d8235ef49553362876
https://doi.org/10.1136/archdischild-2018-315527

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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Autor: Sandya Tirupathi, Gillian Rea, Penny Clouston, Patrick J. Morrison, Jonathan H. Williams

Publikováno v: Rea, G, Tirupathi, S, Williams, J, Clouston, P & Morrison, P J 2019, ' Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy ', Cerebellum (London, England) . https://doi.org/10.1007/s12311-019-01085-7
Cerebellum (London, England)

Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c20f88572d51800eee254e50beb67a9
https://pubmed.ncbi.nlm.nih.gov/33188499

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Globodontia in the otodental syndrome: a rare defect of tooth morphology occurring with hearing loss in an eight-year-old

Autor: Sinead Enright, Gillian Rea, A Karen Humphrys, Jacqueline James

Publikováno v: Dental Update. 42:927-932

Otodental syndrome is a hereditary disorder comprising globodontia and sensorineural hearing loss. Globodontia is characterized by distinctively bulbous, enlarged crowns of molar and primary canine teeth. Anomalies including taurodontism and hypodont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ea71471709b5778c4ba4ca91949143
https://doi.org/10.12968/denu.2015.42.10.927

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Elektronická kniha

My Revision Notes: CCEA GCSE Geography

Autor: Gillian Rea, Jennifer Proudfoot

Exam board: CCEALevel: GCSESubject: GeographyFirst teaching: September 2017First exams: Summer 2019Target success in CCEA GCSE Geography with this proven formula for effective, structured revision; key content coverage is combined with exam-style tas

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