Results 61 to 70 of about 919,210 (312)

Recent and Ancient Signature of Balancing Selection around the S-Locus in Arabidopsis halleri and A. lyrata [PDF]

, 2013
Balancing selection can maintain different alleles over long evolutionary times. Beyond this direct effect on the molecular targets of selection, balancing selection is also expected to increase neutral polymorphism in linked genome regions, in inverse ...
Ruggiero, Maria-Valeria, Roux, Camille, Pauwels, M., Roux, Clément, Castric, Vincent, Vekemans, X., Pauwels, Maxime, M.-V., Ruggiero, Charlesworth, D., Vekemans, Xavier, Charlesworth, Deborah   +10 more
core   +1 more source

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Frontiers in Genetics, 2020
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes.
Cíntia B. Santos-Rebouças, Raquel Boy, Evelyn Q. Vianna, Andressa P. Gonçalves, Rafael M. Piergiorge, Bianca B. Abdala, Jussara M. dos Santos, Veluma Calassara, Filipe B. Machado, Enrique Medina-Acosta, Márcia M. G. Pimentel   +10 more
doaj   +1 more source

Refinement of the Localization of the X-Linked Ocular Albinism Gene

Genomics, 1993
Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)-DXS85-DXS16-Xcen.
Bergen, A. A., Zijp, P., Schuurman, E. J., Bleeker-Wagemakers, E. M., Apkarian, P., van Ommen, G. J.   +5 more
openaire   +3 more sources

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

The gene mutation in a Taiwanese family with X‐linked retinoschisis

The Kaohsiung Journal of Medical Sciences, 2015
AbstractX‐linked retinoschisis (XLRS) is one of the leading causes of macular degeneration in male children. The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X‐linked retinoschisis (XLRS) and to investigate the genetic mutation in the retinoschisin 1 (RS1) gene.
Chin-Te Huang, Shee-Ping Chen, Rong-Kung Tsai   +2 more
openaire   +3 more sources

X-Linked Candidate Genes for a Ciliopathy-Like Disorder [PDF]

Molecular Syndromology, 2016
The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a male patient with a lethal presentation of a multiple congenital anomaly syndrome that appeared consistent ...
Ashleigh R, Pavey, Thierry, Vilboux, Holly E, Babcock, Margot, Ahronovich, Benjamin D, Solomon   +4 more
openaire   +2 more sources

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Analysis of the role of the X/Y homologous gene family Xmr/Sly in murine spermiogenesis [PDF]

, 2009
Spermatogenesis is a complex, continuous developmental process that involves the formation of highly differentiated haploid sperm from diploid spermatogonial stem cells.
Reynard, L N, Reynard, L.N.
core  

Independent stratum formation on the avian sex chromosomes reveals inter-chromosomal gene conversion and predominance of purifying selection on the w chromosome [PDF]

, 2014
We used a comparative approach spanning three species and 90 million years to study the evolutionary history of the avian sex chromosomes. Using whole transcriptomes, we assembled the largest cross-species dataset of W-linked coding content to date.
Wright, Alison E, Harrison, Peter W, Mank, JE, Wright, AE, Montgomery, SH, Mank, Judith E, Pointer, Marie A, Harrison, PW, Pointer, MA, Montgomery, Stephen H   +9 more
core   +1 more source