Results 31 to 40 of about 334,421 (299)

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 more
core   +1 more source

A Comparative Analysis of Mouse Imprinted and Random X-Chromosome Inactivation

Epigenomes
The mammalian sexes are distinguished by the X and Y chromosomes. Whereas males harbor one X and one Y chromosome, females harbor two X chromosomes.
Rebecca M. Malcore, Sundeep Kalantry
doaj   +1 more source

Elastic dosage compensation by X-chromosome upregulation

Nature Communications, 2022
The concerted dynamics of X-chromosome upregulation and X-chromosome inactivation, which collectively balance X-chromosome expression, are not well understood.
Antonio Lentini, Huaitao Cheng, J. C. Noble, Natali Papanicolaou, Christos Coucoravas, Nathanael Andrews, Qiaolin Deng, Martin Enge, Björn Reinius   +8 more
doaj   +1 more source

Loss of DNMT1o Disrupts Imprinted X Chromosome Inactivation and Accentuates Placental Defects in Females [PDF]

, 2013
The maintenance of key germline derived DNA methylation patterns during preimplantation development depends on stores of DNA cytosine methyltransferase-1o (DNMT1o) provided by the oocyte.
A Wagschal, AL Fowden, AS Doherty, B Lehnertz, BK Sun, C Beard, C Mertineit, Christoph Plass, Christopher C. Oakes, CM Disteche, CP Walsh, CY Howell, D Bourc'his, DE Cohen, DJ Smiraglia, E Borowczyk, E Heard, EJ Michaud, H Barr, I Hatada, I Okamoto, I Zvetkova, J Chaumeil, J Silva, J. Richard Chaillet, JA Bailey, Jacquetta M. Trasler, JC Chow, JD West, Jeannie T. Lee, JM Trasler, Josée Martel, JT Lee, JT Lee, K Hata, KD Huynh, KD Huynh, KL Tucker, KP Himes, L Yu, LL Carlson, M Ehrich, M Hemberger, M Kaneda, M Toppings, M. Cecilia Cirio, Marisa S. Bartolomei, MC Cardoso, MC Cirio, MC Cirio, MF Lyon, N Stavropoulos, N Takagi, Pauline de Zeeuw, RJ Klose, RM Boumil, S Ratnam, Serge McGraw, SH Namekawa, T Ohhata, T Ohhata, T Sado, T Sado, T Sado, T Sado, TH Bestor, W Mak, W Mak, W Reik, W Reik, WA Schulz, Winifred Mak, Y Kurihara, Y Marahrens, Y Ogawa, Y Okazaki   +75 more
core   +4 more sources

Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. [PDF]

PLoS Genetics, 2008
X chromosome inactivation in female mammals results in dosage compensation of X-linked gene products between the sexes. In humans there is evidence that a substantial proportion of genes escape from silencing.
Colette M Johnston, Frances L Lovell, Daniel A Leongamornlert, Barbara E Stranger, Emmanouil T Dermitzakis, Mark T Ross   +5 more
doaj   +1 more source

SHOX and sex difference in height: a hypothesis

Endocrine Journal
The mean height is taller in males than in females, except for early teens. In this regard, previous studies have revealed that (1) distribution of the mean adult heights in subjects with disorders accompanied by discordance between sex chromosome ...
Tsutomu Ogata, Atsushi Hattori, Maki Fukami   +2 more
doaj   +1 more source

Normal X-inactivation mosaicism in corneas of heterozygous Flna^Dilp2/+ female mice--a model of human Filamin A (FLNA) diseases

BMC Research Notes, 2012
Background Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA)
Douvaras Panagiotis, Liu Weijia, Mort Richard L, McKie Lisa, West Katrine M, Cross Sally H, Morley Steven D, West John D   +7 more
doaj   +1 more source

X chromosomes alternate between two states prior to random X-inactivation. [PDF]

PLoS Biology, 2006
Early in the development of female mammals, one of the two X chromosomes is silenced in half of cells and the other X chromosome is silenced in the remaining half. The basis of this apparent randomness is not understood.
Susanna Mlynarczyk-Evans, Morgan Royce-Tolland, Mary Kate Alexander, Angela A Andersen, Sundeep Kalantry, Joost Gribnau, Barbara Panning   +6 more
doaj   +1 more source

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

The X chromosome and sex-specific effects in infectious disease susceptibility

Human Genomics, 2019
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome.
Haiko Schurz, Muneeb Salie, Gerard Tromp, Eileen G. Hoal, Craig J. Kinnear, Marlo Möller   +5 more
doaj   +1 more source