Human male meiotic sex chromosome inactivation.

Autor: Marieke de Vries, Sanne Vosters, Gerard Merkx, Kathleen D'Hauwers, Derick G Wansink, Liliana Ramos, Peter de Boer

Publikováno v: PLoS ONE, Vol 7, Iss 2, p e31485 (2012)

In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this p

Externí odkaz: https://doaj.org/article/9ae6426445f9491c913196d4ef9afba4

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Autor: Merel A.W. Oortveld, Ellen A.W. Blokland, Frans P.M. Cremers, Erik Huys, Jyoti Agrawal, C. Erik van Nouhuys, Dominique Smeets, Eric F.P.M. Schoenmakers, Dorien Lugtenberg, Annette Schenck, Gerard Merkx, Jamie M. Kramer, Arijit Mukhopadhyay, Ad Geurts van Kessel, Hans van Bokhoven

Publikováno v: Human Genetics
Human Genetics, 128, 281-91
Human Genetics, 128, 3, pp. 281-91

Contains fulltext : 88320.pdf (Publisher’s version ) (Closed access) Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e261eabaee4e65e7945e7f215b3b08c
https://doi.org/10.1007/s00439-010-0848-x

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Autor: Erik A. Sistermans, Willy M. Nillesen, C G de Kovel, Sascha Vermeer, M Kets, M H A Versteeg, Dominique Smeets, Gerard Merkx, Nine V A M Knoers, Han G. Brunner, B. B. A. De Vries, David A. Koolen, C M A van Ravenswaaij

Publikováno v: Journal of Medical Genetics, 41, 12, pp. 892-9
Journal of Medical Genetics, 41(12), 892-899. BMJ Publishing Group
Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, Van Ravenswaaij, C M A, De Kovel, C G, Brunner, H G, Smeets, D, De Vries, B B A & Sistermans, E A 2004, ' Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) ', Journal of Medical Genetics, vol. 41, no. 12, pp. 892-899 . https://doi.org/10.1136/jmg.2004.023671
Journal of Medical Genetics, 41, 892-9

Contains fulltext : 57521.pdf (Publisher’s version ) (Closed access) BACKGROUND: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2fc120befa75d2fcb4a212beab2dcbf
https://doi.org/10.1136/jmg.2004.023671

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

Autor: Wiljan Hendriks, Gerard Merkx, Joost Schalkwijk, Ivonne M.J.J. van Vlijmen-Willems, Patrick L.J.M. Zeeuwen

Publikováno v: Human Molecular Genetics, 11, 2867-75
Human Molecular Genetics, 11, 23, pp. 2867-75

Item does not contain fulltext Cystatin M/E (CST6 ), a new member of the cystatin gene family, has a restricted expression pattern in humans, which is largely limited to cutaneous epithelia. Although cystatin M/E possesses two distinct biochemical pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fd182be0db439676d4f061d9248934
https://doi.org/10.1093/hmg/11.23.2867

Structure and chromosome location of Smtn, the mouse smoothelin gene

Autor: Pieter A. Doevendans, Sander S. Rensen, A. Geurts van Kessel, G.J.J.M. van Eys, Gerard Merkx

Publikováno v: Cytogenetic and Genome Research. 89:225-229

Smoothelins are cytoskeleton-associated proteins that are found in contractile smooth muscle. Two isoforms have been identified: smoothelin-A, expressed in visceral tissues and smoothelin-B, found in vascular tissues. The mouse smoothelin gene (Smtn)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::074ee13ff662f4624505748ff6968412
https://doi.org/10.1159/000015619