Results 71 to 80 of about 5,812 (165)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

A Bifunctional T3SS‐Effector Simultaneously Cleaves Host MAP Kinase and Inhibits PPM1A Phosphatase

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Pathogenic bacteria exploit the metalloprotease effector NleD to subvert host defenses. Structural, biochemical, and infection analyses reveal a bifunctional mechanism by which NleD binds and inhibits the host phosphatase PPM1A while preserving its proteolytic activity against MAPKs.
Yaakov Socol, Lihi Gur‐Arie, Netanel Tzarum, Tamara Wellins, Naama Katsowich, Miriam Ravins, Michal Bejerano‐Sagie, Klil Cohen, Oded Livnah, Joshua N. Adkins, Ernesto Nakayasu, Alexei Savchenko, Yeu Khai Choong, Nikhil Kumar Tulsian, Saturo Machida, Sigal Ben‐Yehuda, Yael Litvak, J. Sivaraman, Ilan Rosenshine   +18 more
wiley   +1 more source

Genetic investigation of four meiotic genes in women with premature ovarian failure [PDF]

, 2008
International audienceOBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S.
Nicolas, Alain, Cotinot, Corinne, Kuttenn, Frédérique, Mandon-Pepin, Béatrice, Fellous, Marc, Derbois, Céline, Matsuda, Fumihiko, Rouxel, Agnes, Touraine, Philippe   +8 more
core   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Helicases and DNA dependent ATPases of Sulfolobus solfataricus [PDF]

, 2008
Electronic version does not contain associated previously published materialDNA is susceptible to various types of damage as a result of normal cellular metabolism or from environmental sources.
Richards, Jodi D.
core  

Molecular Mechanism of the IRF1/NFE2L1‐DT/ALKBH5/Cx43 Axis in Radiation‐Induced Injury in Vascular Endothelial Cells Through Pyroptosis

The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 7, July 2026.
ABSTRACT Radiotherapy effectively eradicates tumor cells but can also trigger pyroptotic damage in vascular endothelial cells. This study investigates the role of interferon regulatory factor 1 (IRF1) in radiation‐induced endothelial injury, aiming to provide mechanistic insights for optimizing radiotherapy.
Chen Li, Jia‐Wen Yang, Yong‐Rui Jia, Jie Zhang, Qiao Gou   +4 more
wiley   +1 more source

Verification of the expression of the proteins identified. [PDF]

, 2013
(A) Validation of the SILAC results of selected proteins in immunoblots of protein extracts from the bladder cancer cells analyzed. The results validated the expression levels of proteins identified by the proteomic approach, including differentially and
Jose L. Luque-Garcia (105541), Marta Sánchez-Carbayo (105557), Jesus M. Fernandez-Gomez (105552), Laura Grau (105537), Pilar González-Peramato (105544), Dan Theodorescu (105547), Joan Palou (105549)   +6 more
core   +1 more source

Identification of SNPs Associated With mRNA Expression Differences of the Complement Receptor Type 1‐Like Gene in Landrace Weaned Piglets

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
ABSTRACT Objective The aim of this study is to investigate the association between single nucleotide polymorphisms (SNPs) of porcine complement receptor 1‐like (CR1‐like) gene and its mRNA expression. Methods SNP identification, qRT‐PCR absolute quantification, linkage disequilibrium analysis and dual‐luciferase reporter assay were performed using 392 ...
Wei Yin, Jiachen Cheng, Qiongyu Li, Luyang Xu, Hongquan Li, Kuohai Fan, Zhenbiao Zhang, Na Sun, Panpan Sun, Huizhen Yang   +9 more
wiley   +1 more source

Analysis of the role of the X/Y homologous gene family Xmr/Sly in murine spermiogenesis [PDF]

, 2009
Spermatogenesis is a complex, continuous developmental process that involves the formation of highly differentiated haploid sperm from diploid spermatogonial stem cells.
Reynard, L N, Reynard, L.N.
core  

Early-onset/young-onset colorectal carcinoma: A comparative analysis of morphological features and biomarker profile [PDF]

, 2023
Introduction: Colorectal carcinoma (CRC) is one of the most common cancers that involve the human body. Young-onset CRC (YO-CRC) or early-onset CRC (EO-CRC) is defined as CRC that develops before the age of 50 years, as opposed to CRC that is diagnosed ...
Dowlah, Tanim Ud, Hashmi, Atif A, Sham, Sunder, Irfan, Muhammad, Rashid, Khushbakht, Aslam, Mahnoor, Zia, Shamail, Ali, Abrahim H, Zia, Fazail, Malik, Umair Arshad   +9 more
core   +1 more source