Results 61 to 70 of about 554,004 (364)

An assessment of opportunities to dissect host genetic variation in resistance to infectious diseases in livestock

, 2009
This paper reviews the evidence for host genetic variation in resistance to infectious diseases for a wide variety of diseases of economic importance in poultry, cattle, pig, sheep and Atlantic salmon.
S. Genini, Davies, G., Giuffra, E., Bishop, S. C., G. Davies, S.C. Bishop, Genini, S., E. Giuffra   +7 more
core   +1 more source

Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency.

Genomics, 1994
Parallel genetic analysis of animal and human genetic diseases can facilitate the identification and characterization of the causative gene defects.
Suzanne M. Deschênes, J. M. Puck, Amalia Dutra, R. Somberg, P. Felsburg, Paula S. Henthorn   +5 more
semanticscholar   +1 more source

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

, 2012
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults.
Aubourg, Patrick, Kemp, Stephan, Berger, Johannes   +2 more
core   +1 more source

Serological Benefit of SARS‐CoV‐2 Vaccination Relative to Infection in Children With Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with acute lymphoblastic leukemia (ALL) are at risk of severe outcomes from SARS‐CoV‐2 (SCV2). In the post‐pandemic context, where most children have been infected with SCV2, there are limited data on whether vaccination remains beneficial in children with ALL.
Janna R. Shapiro, Freda Qi, Karen Colwill, Alina D. Dorogy, Ying Liu, Michelle Science, Anne‐Claude Gingras, James M. Rini, Sumit Gupta, Sarah Alexander, Shelly Bolotin, Tania H. Watts   +11 more
wiley   +1 more source

A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)

International Journal of Neonatal Screening
The goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan to ...
Macie Hricovec, Amy Gaviglio, Christina Mealwitz, Michelle Merrill, Aaron J. Goldenberg   +4 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

When sex matters: a complete model of X-linked diseases

, 2018
X-linked recessive diseases are genetic disorders caused by gene's abnormalities placed on the X chromosome. Due to differences between males and females in sex chromosomes, the transmission mechanisms of these diseases vary in the two sexes.
Glielmo, L., Verrilli, F., L. Glielmo, F. Verrilli, C. Del Vecchio, Del Vecchio, C.   +5 more
core   +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

Influence of X chromosome in sex-biased autoimmune diseases.

Journal of Autoimmunity, 2023
Females have better ability to resolve infections, compared to males, but also, a greater susceptibility to develop autoimmunity. Besides the initial interest on the contribution of sex-steroid hormone signaling, the role of genetic factors linked to X ...
Charles-Henry Miquel, Bérénice Faz-Lopez, J. Guéry   +2 more
semanticscholar   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source