Zobrazeno 1 - 10 of 77 pro vyhledávání: '"Twigg SRF"'
1
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Autor: Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, Morton, JV, Noons, P, Ockeloen, CW, Phipps, JM, Tan, TY, Timberlake, AT, Vanlerberghe, C, Wall, SA, Weber, A, Wilson, LC, Zackai, EH, Mathijssen, IMJ, Twigg, SRF, Wilkie, AOM
Publikováno v: Genetics in Medicine, 25(9):100883. Lippincott Williams & Wilkins
Purpose Studies previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the pre-osteogenic cells of the cranial sutures. We investigated the role of heterozygous missense and loss-of-function var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344a46148d5e8f909edaba47a9af5b4e
https://doi.org/10.1016/j.gim.2023.100883
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2
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
Autor: Dirk Schmidt-Arras, S Manrique, Jürgen Scheller, Glüer C-C., Jonathan Jung, Arian Laurence, Wilkie Aom., Dominik Aschenbrenner, Steven A. Wall, Miryam Müller, Chen Y-H., U Borgmeyer, T Damm, Twigg Srf., Neele Schumacher, F Krause, E Y Jones, Stefan Rose-John, Tobias Schwerd, Holm H. Uhlig
Publikováno v: Bone Research
Bone Research, Vol 8, Iss 1, Pp 1-12 (2020)
The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. We c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14d7c459d5d1feebb190cdc949ff685
https://doi.org/10.1038/s41413-020-0098-z
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3
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Autor: Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, SMA, Goos, JAC, Popoola, O, Ruiz, MJ, Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, K-R, Osio, D, Santos, FJ, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, MF, Study, Deciphering Developmental Disorders, van der Spek, PJ, Twigg, SRF, Mathijssen, IMJ, Clarke, PA, Wilkie, A
Publikováno v: American Journal of Human Genetics, 104(4), 709-720. Cell Press
American Journal of Human Genetics
The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0ee1be1d5165b3d84b13f585cbbcf42f
https://pure.eur.nl/en/publications/41a0830d-84cc-45cd-9db1-3553c3f86020
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4
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Autor: Morton Jev., Helen Lord, Wilkie Aom., Araceli Cuellar, Tracy Lester, Meena Balasubramanian, Twigg Srf., Simon J. McGowan, Simeon A. Boyadjiev, A. Weber, David Johnson, Louise C. Wilson, Mathijssen Imj., F Boardman-Pretty, Steven A. Wall, J M Phipps, Wanda Lattanzi, Eduardo Calpena, N Koelling, Michael L. Cunningham, Swagemakers Sma., Krithi Bala, Sofia Douzgou, Deborah J. Shears
Publikováno v: Genetics in Medicine. 22:1567
textabstractThe version of the Article previously published did not acknowledge Freya Boardman-Pretty17,18 and the Genomics England Research Consortium in the author list. This has now been corrected in both the PDF and HTML versions of the Article.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c83f18d6bf7adaf84f45607778e60b0
https://doi.org/10.1038/s41436-020-0886-2
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5
Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function
Autor: Shahin, T, Aschenbrenner, D, Cagdas, D, Bal, SK, Conde, CD, Garncarz, W, Medgyesi, D, Schwerd, T, Karaatmaca, B, Cetinkaya, PG, Twigg, SRF, Cant, A, Wilkie, AOM, Tezcan, I, Uhlig, HH, Boztug, K
Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f456433d37e64cb8b0d0ca4bf84a5ec5
https://doi.org/10.3324/haematol.2018.194233
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6
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Autor: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
Publikováno v: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379
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7
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
Autor: Hamilton, M, Caswell, R, Canham, N, Twigg, SRF, Wilkie, AOM, et al
Publikováno v: Journal of Medical Genetics. 55(1)
INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations.METHODS: Patients were investigated by exome seq
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::144784cb04728e9737337216db908a0d
http://ora.ox.ac.uk/objects/uuid:
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10
Acromelic frontonasal dysostosis and ZSWIM6 mutation:phenotypic spectrum and mosaicism
Autor: Twigg, SRF, Ousager, LO, Miller, KA, Zhou, Y, Elalaoui, SC, Sefiani, A, Bak, GC, Hove, H, Hansen, LK, Fagerberg, CR, Tajir, M, Wilkie, AOM
Publikováno v: Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e115c64ceb5604ddbc07e0398227e65
https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
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