Results 71 to 80 of about 2,267,994 (311)

The differential view of genotype-phenotype relationships [PDF]

, 2015
An integrative view of diversity and singularity in the living world requires a better understanding of the intricate link between genotypes and phenotypes.
Virginie eOrgogozo, Orgogozo, Virginie, Arnaud Martin, Baptiste eMorizot, Baptiste Morizot, Martin, Arnaud, Arnaud eMartin, Morizot, Baptiste, Virginie Orgogozo   +8 more
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients [PDF]

, 2012
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in
Kay eMetcalfe, Metcalfe, K., Annette Karmiloff-Smith, Senju, Atsushi, Peter Turnpenny, Wu, Racehl, Longhi, Elena, Happé, Francesca, Kay Metcalfe, Sansbury, F., Hannah Broadbent, Longhi, E, Metcalfe, Kay, Farran, EK, D'Souza, D, Happé, F., Turnpenny, Peter, Annette eKarmiloff-Smith, Wu, Rachel, Elena eLonghi, Longhi, E., Sansbury, Francis, Francesca eHappé, D'Souza, Dean, Elena Longhi, Tassabehji, M., Emily K. Farran, Turnpenny, P., Metcalfe, K, Tassabehji, May, Karmiloff-Smith, A, Dean eD'Souza, Broadbent, H., Broadbent, Hannah, Tassabehji, M, Atsushi Senju, Broadbent, H, Francis eSansbury, Rachel Wu, Wu, R, Peter eTurnpenny, May eTassabehji, Happé, F, Farran, E.K., Atsushi eSenju, Francis Sansbury, Turnpenny, P, Dean D’Souza, Francesca Happé, Senju, A, Hannah eBroadbent, Rachel eWu, Sansbury, F, May Tassabehji, Karmiloff-Smith, Annette, Farran, Emily K   +55 more
core   +1 more source

Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Journal of Neurorestoratology, 2022
We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome.
Shu-ying Cai, Pei Li, Shu-xiang Hu, Hui-qiang Cai, Wen-jie Li, Gui-lan Peng   +5 more
doaj   +1 more source

Phenotyping bleeding [PDF]

Current Opinion in Hematology, 2012
Although recorded evidence of phenotyping bleeding disorders extends back two millennia, standardization of phenotyping has only begun in the past half century. This was spurred by the need for greater precision in diagnosing disorders in order to select proper laboratory tests and treatment, and the realization that the bleeding history provides ...
Paula, James, Barry S, Coller
openaire   +2 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Using the community-based breeding program (CBBP) model as a collaborative platform to develop the African Goat Improvement Network—Image collection protocol (AGIN-ICP) with mobile technology for data collection and management of livestock phenotypes

Frontiers in Genetics, 2023
Introduction: The African Goat Improvement Network Image Collection Protocol (AGIN-ICP) is an accessible, easy to use, low-cost procedure to collect phenotypic data via digital images.
M. Jennifer Woodward-Greene, M. Jennifer Woodward-Greene, M. Jennifer Woodward-Greene, Jason M. Kinser, Heather J. Huson, Tad S. Sonstegard, Johann Soelkner, Iosif I. Vaisman, Paul Boettcher, Clet W. Masiga, Christopher Mukasa, Solomon Abegaz, Morris Agaba, Sahar S. Ahmed, Oliver F. Maminiaina, Tesfaye Getachew, Timothy N. Gondwe, Aynalem Haile, Yassir Hassan, Absolomon Kihara, Aly Kouriba, Hassan A. Mruttu, Denis Mujibi, Wilson Nandolo, Barbara A. Rischkowsky, Benjamin D. Rosen, Brian Sayre, Maria Taela, Curtis P. Van Tassell   +28 more
doaj   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

Elucidation of the role of glutamine synthetase seed isoform GLN1;5 in Arabidopsis thaliana (L.) with a reverse genetics approach [PDF]

Archives of Biological Sciences, 2019
Glutamine synthetase (E.C. 6.3.1.2) is a key enzyme of plant nitrogen metabolism that assimilates ammonia into glutamine. The Arabidopsis thaliana genome encodes one chloroplastic (GLN2) and five cytosolic (GLN1;1 – GLN1;5) isoforms with different ...
Dragićević Milan B., Ćuković Katarina B., Zdravković-Korać Snežana R., Simonović Ana D., Bogdanović Milica D., Todorović Slađana I.   +5 more
doaj   +1 more source