Results 41 to 50 of about 159,600 (311)

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources

Under-dominance constrains the evolution of negative autoregulation in diploids [PDF]

, 2013
Regulatory networks have evolved to allow gene expression to rapidly track changes in the environment as well as to buffer perturbations and maintain cellular homeostasis in the absence of change.
Pomiankowski, A, Reuter, M, Seymour, RM, Stewart, AJ   +3 more
core  

The Heterozygote Superiority Hypothesis for Polymorphic Color Vision Is Not Supported by Long-Term Fitness Data from Wild Neotropical Monkeys

PLoS ONE, 2014
The leading explanatory model for the widespread occurrence of color vision polymorphism in Neotropical primates is the heterozygote superiority hypothesis, which postulates that trichromatic individuals have a fitness advantage over other phenotypes ...
L. Fedigan, A. Melin, J. Addicott, S. Kawamura   +3 more
semanticscholar   +1 more source

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

FEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan, Jingling Huang, Xiang Lin, Tingjiao Lan, Yuli Tang, Ling Sun, Guixuan Zhou   +6 more
wiley   +1 more source

Two rare hemoglobin variants in the Çukurova Region of Turkey: Hb E-Saskatoon and Hb G-Coushatta

Turkish Journal of Hematology, 2011
Hb E-Saskatoon and Hb G-Coushatta are rare hemoglobin variants that are not a health problem. Herein we present a Turkish woman that was diagnosed as homozygous Hb E-Saskatoon (only the second such case reported from Turkey) and a Turkish boy diagnosed ...
Ahmet Genç, Mehmet Akif Çürük
doaj   +3 more sources

A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. [PDF]

, 2016
Fertility depends on the correct maturation and function of approximately 800 gonadotropin-releasing hormone (GnRH) neurons in the brain. GnRH neurons are at the apex of the hypothalamic-pituitary-gonadal axis that regulates fertility. In adulthood, GnRH
Hoffmann, Hanne M, Mellon, Pamela L
core   +1 more source

Independent associations of TOMM40 and APOE variants with body mass index [PDF]

, 2019
The TOMM40-APOE variants are known for their strong, antagonistic associations with Alzheimer's disease and body weight. While a stronger role of the APOE than TOMM40 variants in Alzheimer's disease was suggested, comparative contribution of the TOMM40 ...
Arbeev, Konstantin G, Bagley, Olivia, Christensen, Kaare, Culminskaya, Irina, Feitosa, Mary F, Huang, Jian, Kulminski, Alexander M, Loika, Yury, Long Life Family Study Research Group,, Yashin, Anatoliy I, Zmuda, Joseph M   +10 more
core   +2 more sources

Detection of Phenylketonuric Heterozygotes

Clinical Chemistry, 1971
Abstract Estimation of plasma phenylalanine and tyrosine by an abridged (30 min) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were
S H, Jackson, W B, Hanley, T, Gero, G D, Gosse   +3 more
openaire   +2 more sources

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

Human Genome Variation, 2023
A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our ...
Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia   +4 more
doaj   +1 more source