Results 291 to 300 of about 318,338 (358)

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

Clinical Genetics, EarlyView.
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

Prion shedding is reduced by chronic wasting disease vaccination. [PDF]

PLoS Pathog
Ahmed-Hassan H, Abdelaziz D, Cheng YC, Low K, Phan S, Kruger B, Dalton CS, Kaczmarczyk L, Jackson WS, Gilch S, Schätzl HM.   +10 more
europepmc   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Cell-specific DNA methylation in human alpha and beta cells regulates gene expression in type 2 diabetes. [PDF]

Nat Metab
Ofori JK, Ruhrmann S, Lindström A, Perfilyev A, Martin M, Karagiannopoulos A, Scisciola L, Kost K, Jönsson J, Nilsson Å, Kantor B, Dudenhöffer-Pfeifer M, Rots MG, Wendt A, Rönn T, Eliasson L, Bacos K, Ling C.   +17 more
europepmc   +1 more source

B1-B cells are the main antigen presenting cells in CpG-oligodeoxynucleotides-stimulated peritoneal exudate cells.

弘道 馬場
openalex   +1 more source

Monitoring of haematopoietic stem cell mobilization by targeted DNA methylation analysis for the British Journal of Haematology

British Journal of Haematology, EarlyView.
Wouter H. G. Hubens, Anke Diehlmann, Patrick Wuchter, Wolfgang Wagner   +3 more
wiley   +1 more source

Establishment of Human Formative Pluripotent Stem Cell‐Like Cells Exhibiting Amniotic Differentiation Potentials

Cell Proliferation, EarlyView.
The hfPSC‐LCs could be established from naïve hESCs, conventional hESCs, hiPSCs, and human blastocysts. The hfPSC‐LCs hold robust capacity for three germ layers, hPGCLCs, and hALPCs. ABSTRACT Human embryos undergo pivotal morphogenetic remodelling shortly after implantation. The understanding of this crucial stage is severely impeded by the scarcity of
Xiaoxiao Wang, Qizhi Wang, Yu Wu, Chen Gu, Mingfei Li, Yong Fan, Xiangjin Kang, Lei Li, Zheng Gao, Mingyan Hei, Jianqiao Liu, Lei Li   +11 more
wiley   +1 more source

Novel epigenetic marks of insulin resistance trajectories in a longitudinal study of childhood obesity. [PDF]

Cardiovasc Diabetol
Anguita-Ruiz A, Torres-Martos Á, Bustos-Aibar M, Setó-Llorens A, Ruiz-Ojeda FJ, Moreno LA, Gil Á, Gil-Campos M, Bueno G, Leis R, Alcalá-Fdez J, Aguilera CM.   +11 more
europepmc   +1 more source

DNA Methylation in Gastric Cancer and Preneoplastic Lesions: Emerging Insights and Future Directions. [PDF]

Cancers (Basel)
Ceccon C, Maddalena G, Angerilli V, Nappo F, Gasparello J, Sabbadin M, Toffolatti L, Bergamo F, Fassan M, Lonardi S.   +9 more
europepmc   +1 more source