Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Autor: María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié

Publikováno v: International Journal of Molecular Sciences, Vol 15, Iss 6, Pp 10350-10364 (2014)

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encod

Externí odkaz: https://doaj.org/article/46caecaf38c24c69a5b06ed6e4d253f5

ANKRD11 variants: KBG syndrome and beyond

Autor: Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li

Publikováno v: Clinical geneticsREFERENCES. 100(2)

Mutations affecting the transcriptional regulator ANKRD11 are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668804a0e706fdf645d64ce67eee4e7b
https://pubmed.ncbi.nlm.nih.gov/33955014

Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles

Autor: Stefanie Bubel, Christine Zühlke, Katrin Bürk, Andreas Dalski, Eberhard Schwinger, Yorck Hellenbroich

Publikováno v: European Journal of Human Genetics. 10:204-209

CAG repeat expansions with loss of CAT interruptions in the coding region of the ataxin-1 gene are associated with spinocerebellar ataxia type 1 (SCA1). For molecular genetic diagnosis it is necessary to define the limits of normal and pathological s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d6397b101d1aae295fe80e4b58273e
https://doi.org/10.1038/sj.ejhg.5200788

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

Autor: Martin Kann, Katja Hedrich, Cordula Eskelson, Eberhard Schwinger, Andreas Dalski, Xandra O. Breakefield, Peter Vieregge, Laurie J. Ozelius, Andrea J. Lanthaler, Christine Klein, Peter P. Pramstaller, Anthony E. Lang, Olfert Landt

Publikováno v: Scopus-Elsevier

Early-onset parkinsonism (EOP) may be associated with different mutations in the parkin gene, including exon deletions and duplications. To test for gene dosage alterations, we developed a new method of quantitative duplex PCR using the fluorescence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533f5c12f3bae68b4861b22d1bf88053
https://doi.org/10.1093/hmg/10.16.1649

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Autor: Andreas Dalski, Abhinav Rampuria, María Concepción Gil-Rodríguez, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Jolanta Wierzba, Melanie Hullings, Antonie D. Kline, Mark B. Mallozzi, Dinah Clark, Melanie Albrecht, Andreas Tzschach, Ian D. Krantz, Christopher T. Fincher, Elizabeth Loy, Matthew A. Deardorff, Juliane Eckhold, Janusz Limon, Raoul C.M. Hennekam, Maninder Kaur, Diana Braunholz

Publikováno v: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
European journal of human genetics, 20(3), 271-276. Nature Publishing Group

Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations in nearl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fffeba3c1b8a26c4d33bb6014cfc30
https://europepmc.org/articles/PMC3283190/