Results 31 to 40 of about 328,618 (261)

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

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports, 2019
Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge, Andrew J. Kueh, Francine Ke, Natasha M. Zamudio, Farrah El-Saafin, Natasha Jansz, Gao-Yuan Wang, Megan Iminitoff, Tamara Beck, Sue Haupt, Yifang Hu, Rose E. May, Lachlan Whitehead, Lin Tai, William Chiang, Marco J. Herold, Ygal Haupt, Gordon K. Smyth, Tim Thomas, Marnie E. Blewitt, Andreas Strasser, Anne K. Voss   +21 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

X-Chromosome Inactivation and Related Diseases

Genetics Research, 2022
X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes.
Zhuo Sun, Jinbo Fan, Yang Wang
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Cis- and trans-regulation in X inactivation [PDF]

Chromosoma, 2015
Female mammalian cells compensate dosage of X-linked gene expression through the inactivation of one of their two X chromosomes. X chromosome inactivation (XCI) in eutherians is dependent on the non-coding RNA Xist that is up-regulated from the future inactive X chromosome, coating it and recruiting factors involved in silencing and altering its ...
Bemmel, Joke, Mira Bontenbal, Hegias, Gribnau, Joost   +2 more
openaire   +3 more sources

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

X chromosome inactivation, X-linked disorders, and cancer

Frontiers in Genetics
X chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía, Patricia Pérez-Vera, Fernando Gómez-Chávez, Ximena Pérez Baena, Daniel Martínez Anaya, Jorge Colín Rubio, María del Pilar Navarrete-Meneses   +6 more
doaj   +1 more source

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Molecular Cytogenetics, 2009
Background Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were
Menezes Albert N, Moreira Miguel AM, Moura Vera LS, Cardoso Leila CA, Moraes Lucia M, Llerena Juan C, Seuánez Héctor N   +6 more
doaj   +1 more source