Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Autor: Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

Contains fulltext : 118112.pdf (Publisher’s version ) (Open Access) Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145
http://europepmc.org/articles/PMC3605834

Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of KCNC3.

Autor: Reis, Marlen Colleen¹ (AUTHOR) marlen.reis@humangenetik.med.uni-giessen.de, Härtel, Frauke^1,2 (AUTHOR), Richter, Antje Maria³ (AUTHOR) antje.m.richter@gen.bio.uni-giessen.de, Weiß, Michaela¹ (AUTHOR), Mösle, Lea-Theresa^1,4 (AUTHOR), Dammann, Reinhard Heinrich³ (AUTHOR) reinhard.dammann@gen.bio.uni-giessen.de, Nolte, Dagmar¹ (AUTHOR) dagmar.nolte@humangenetik.med.uni-giessen.de

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12444. 12p.

The Genetics of Chiari 1 Malformation.

Autor: Yan, Rachel E.¹ (AUTHOR) ray4001@med.cornell.edu, Chae, John K.¹ (AUTHOR) nhc9003@nyp.org, Dahmane, Nadia¹ (AUTHOR) nad2639@med.cornell.edu, Ciaramitaro, Palma² (AUTHOR) palma.ciaramitaro@gmail.com, Greenfield, Jeffrey P.¹ (AUTHOR) jpgreenf@med.cornell.edu

Publikováno v: Journal of Clinical Medicine. Oct2024, Vol. 13 Issue 20, p6157. 15p.

Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection

Autor: Mangano, VD, Luoni, G, Rockett, KA, Sirima, BS, Konaté, A, Forton, J, Clark, TG, Bancone, G, Sadighi Akha, E, Akha, ES, Kwiatkowski, DP, Modiano, D

We describe the haplotypic structure of the interferon regulatory factor-1 (IRF-1) locus in two West African ethnic groups, Fulani and Mossi, that differ in their susceptibility and immune response to Plasmodium falciparum malaria. Both populations s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96540337caef324e90eec426e15773cf
http://hdl.handle.net/11573/419272

Human response to Plasmodium falciparum infection: interest of the IRF1 locus

Autor: Luoni, G, Mangano, Valentina, Rockett, K, Sirima, Bs, Forton, J, Sadighi Akha, E, Konaté, A, Kwiatkowski, D, Modiano, David

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::d506f0b331c33592eaab5f52dfa0be62
http://hdl.handle.net/11573/482933