Results 111 to 120 of about 3,861,183 (367)

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

bioRxiv, 2019
We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and 3 previously reported), and 4 individuals
A. O’Donnell-Luria, L. Pais, Víctor Faundes, J. Wood, A. Sveden, V. Luria, R. Jamra, A. Accogli, K. Amburgey, B. Anderlid, S. Azzarello-Burri, Alice A. Basinger, C. Bianchini, L. Bird, R. Buchert, W. Carré, S. Ceulemans, P. Charles, H. Cox, Lisa Culliton, Aurora Curró, D. D. D. Study, F. Démurger, J. Dowling, B. Duban‐Bedu, C. Dubourg, Luis Fernando González Escobar, A. Ferrarini, T. Haack, Mona Hashim, S. Heide, K. Helbig, I. Helbig, R. Heredia, D. Heron, B. Isidor, Amy R. Jonasson, P. Joset, B. Keren, F. Kok, H. Kroes, A. Lavillaureix, Xin Lu, S. Maas, G. Maegawa, Carlo Marcelis, Saga Elise Eiset, P. Mark, M. Masruha, H. Mclaughlin, K. McWalter, Esther U Melchinger, S. Mercimek-Andrews, C. Nava, Manuela Pendziwiat, R. Person, G. Ramelli, Luiza Ramos, A. Rauch, C. Reavey, A. Renieri, Angelika Rie szlig, Amarilis Sanchez-Valle, Shifteh Sattar, Carol J. Saunders, N. Schwarz, T. Smol, M. Srour, K. Steindl, S. Syrbe, Jenny C. Taylor, A. Telegrafi, I. Thiffault, D. Trauner, H. Linden, S. Koningsbruggen, L. Villard, I. Vogel, J. Vogt, Y. Weber, I. Wentzensen, E. Widjaja, J. Zak, S. Baxter, S. Banka, Lance H Rodan   +85 more
semanticscholar   +1 more source

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, EarlyView.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 more
wiley   +1 more source

M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits

Advanced Science, EarlyView.
Genes associated with endometriosis risk are highly expressed in M2 macrophages, particularly ligands IL1A and IL1B. Endometrial‐type epithelium and stroma are likely recipients of these ligands. While IL1B treatment disturbs epithelial organization, blockage of the signaling results in a dose‐dependent decrease in spontanesous and evoked pain, reduces
Soledad Ochoa, Fernanda S. Rasquel‐Oliveira, Brett McKinnon, Marcela Haro, Sugarniya Subramaniam, Pak Yu, Simon Coetzee, Michael S. Anglesio, Kelly N. Wright, Raanan Meyer, Anne E. Porter, Caroline E. Gargett, Sally Mortlock, Grant W. Montgomery, Michael S. Rogers, Kate Lawrenson   +15 more
wiley   +1 more source

RAD21L1 Is Sufficient and Effective for Reprogramming Human Sertoli Cells to Phenotypic Spermatogonial Stem Cells Through DNA Methylation and Essential for Male Fertility

Advanced Science, EarlyView.
RAD21L1 is upregulated in human Sertoli cells to be transited to become spermatogonial stem cells by overexpressing DAZ family three genes. RAD21L1 is sufficient and effective for reprogramming Sertoli cells into human spermatogonial stem cells with high safety through DNA methylation.
Caimei He, Yinghong Cui, Wei Chen, Chunyun Li, Zuping He   +4 more
wiley   +1 more source

Epigenetics and autoimmune diseases: The X chromosome-nucleolus nexus

Frontiers in Genetics, 2015
Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents ...
Wesley H. Brooks, Yves eRenaudineau, Yves eRenaudineau   +2 more
doaj   +1 more source

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]

, 2020
A significant number of X-linked genes escape from X chromosome inactivation and are associated with a distinct epigenetic signature. One epigenetic modification that strongly correlates with X-escape is reduced DNA methylation in promoter regions. Here,
Anderson, Johnathon D, Buchanan, Fiona KB, Cameron, David, Carter, Jasmine L, Coggins, Nicole B, Deng, Peter, Fink, Kyle D, Gonzalez, Casiana E, Halmai, Julian ANM, Halmai, Julian ANM, Lock, Samantha R, Nolta, Jan, O'Geen, Henriette, Segal, David J, Waldo, Jennifer J   +14 more
core   +1 more source

Microfilament‐Myosin II Regulates the Differentiation of Multinucleated Cysts into Oocytes and Influences Oocyte Developmental Potential in Mice

Advanced Science, EarlyView.
In this study, we provided new evidence identifying multinucleated cysts as precursors for oocyte differentiation. Within these cysts, organelles migrate and aggregate to form Balbiani body (B‐body) and establish early cellular polarity. Concurrently, excess nuclei are expelled, enabling cyst‐to‐oocyte differentiation. The microfilament‐myosin II plays
Rui Xu, Menghao Pan, Zhi Zheng, Yaju Tang, Yutong Yan, Sihai Lu, Sha Peng, Baohua Ma   +7 more
wiley   +1 more source

Role of sex in immune response and epigenetic mechanisms

Epigenetics & Chromatin
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal differences. Epigenetic mechanisms such as X chromosome inactivation, mosaicism, skewing, and dimorphism in
Sombodhi Bhattacharya, Debasmita Sadhukhan, Radha Saraswathy   +2 more
doaj   +1 more source

Life Factors and Melanoma: From the Macroscopic State to the Molecular Mechanism

Advanced Science, EarlyView.
Melanoma, an aggressive skin cancer, arises from dynamic interactions between genetic, environmental, and lifestyle factors. This review explores how age, gender, obesity, diet, exercise, smoking, alcohol, UV exposure, circadian rhythms, and medications influence melanoma risk and progression.
Hanbin Wang, Hengxiang Zhang, Yuqi Zhou, Chunying Li, Weinan Guo   +4 more
wiley   +1 more source