Results 121 to 130 of about 884,084 (316)

American Society of Human Genetics Position Paper on Patenting of Expressed Sequence Tags

open access: yes, 1991
ESTs position ...
American Society of Human Genetics [ASHG]. Human Genome Committee American Society of Human Genetics. Board of Directors
core  

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

open access: yes, 2015
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short ...
Morandell, Jasmin   +26 more
core   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

open access: yesFEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee   +7 more
wiley   +1 more source

HUMAN GENETICS [PDF]

open access: yesAnnual Review of Genetics, 1970
openaire   +2 more sources

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

open access: yesFEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Y chromosome variation and complex traits: the Ygen consortium

open access: yes, 2015
The genetics of complex traits have been studied in great detail using Genome-Wide Association Studies (GWAS), leading to substantive insights regarding the genetic determinants of quantitative traits and disease mechanisms.
Joshi, P. K.   +4 more
core  

Design and analysis strategies for robust microbiome ageing research

open access: yesFEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik   +5 more
wiley   +1 more source

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

open access: yesFEBS Letters, EarlyView.
CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens   +8 more
wiley   +1 more source

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