Results 161 to 170 of about 130,902 (295)

Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders. [PDF]

Epigenetics Chromatin
Wheeler MES, Takahashi Y, Lee J, Perez CT, Chen X, Lee Y, Pope ZS, Lu DJ, Seldin M, Marazzi I, Yun H, Weirauch MT, Byun M.   +12 more
europepmc   +1 more source

Evolution and Climate Adaptation in Eurasian Gyrfalcon Populations

Ecology and Evolution, Volume 16, Issue 2, February 2026.
This reports the influence of past, current and future Arctic climate change to the evolution of Eurasian gyrfalcons (Falco rusticolus), and reveals that its current evolutionary potential is insufficient to cope with the ongoing Arctic warming. ABSTRACT Climate change is considered a key driver for shaping ecological and evolutionary processes of ...
Xin Liu, Li Hu, Zhenzhen Lin, Shengkai Pan, Siying Huang, Vasiliy Sokolov, Aleksandr Sokolov, Ivan Fufachev, Sergey Ganusevich, Andrew Dixon, Xiangjiang Zhan   +10 more
wiley   +1 more source

CXCR4 antagonism corrects neutrophil abnormalities and reduces pneumonia severity in a pharmacological mouse model of CXCR2 loss-of-function-mediated neutropenia. [PDF]

Front Immunol
Nguyen CH, Zmajkovicova K, Sekirnik A, Taplin S, Defontis M, Bledsoe JR, Taveras AG, Karlsson L, Johnson R.   +8 more
europepmc   +1 more source

Meningococcal Serogroup Y Meningitis Reveals Inborn Factor B Deficiency

European Journal of Immunology, Volume 56, Issue 2, February 2026.
We report a novel case of complete complement Factor B deficiency revealed by invasive meningococcal disease. Using combined functional and genetic analyses, we demonstrate that loss of Factor B abolishes alternative pathway activity despite detectable protein levels. These findings provide a mechanistic framework relevant to complement diagnostics and
Camille Bougeard, Eléonore Eskander, Paula Vieira Martins, Joan Bitan, Julia Roquigny, Christèle Kyheng, Tamazoust Guiddir, Véronique Frémeaux‐Bacchi, Cécile Gonnin, Carine ElSissy   +9 more
wiley   +1 more source

Paradoxical Maturity-Onset Diabetes of the Young Arising From Loss-of-Function Mutations in ATP-Sensitive Potassium Channels. [PDF]

Diabetes
Scala R, Li Y, Gao J, York NW, Unnikrishnan R, Anjana RM, Mohan V, Sundaramoorthy G, Kavitha B, Radha V, Nichols CG.   +10 more
europepmc   +1 more source

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, Volume 11, Issue 1, Page 190-199, February 2026.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature. [PDF]

Am J Hum Genet
Jeong R, Covarrubias S, Shanghavi D, Ruhrmund D, Estrada K, Zhou D, Marom N, Bauer CR, Froelich S.   +8 more
europepmc   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, Volume 11, Issue 1, Page 280-290, February 2026.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Differential chromatin accessibility response to retinoic acid in neuroblastoma with ATRX in-frame-deletions versus ATRX loss-of-function. [PDF]

Neoplasia
Lorenzi F, Shipley M, Deane L, Goldstone R, Tandon V, da Costa BM, Greenslade K, Barker K, Nemati F, Bellini A, Schleiermacher G, Chesler L, Guillemot F, George SL.   +13 more
europepmc   +1 more source

Hybrid PCA-Based and Machine Learning Approaches for Signal-Based Interference Detection and Anomaly Classification Under Synthetic Data Conditions. [PDF]

Sensors (Basel)
Čikovský S, Šváb P, Hanák P.
europepmc   +1 more source