Results 81 to 90 of about 123,315 (302)

Optimization of B Cell Responses in Human Immune System Mice Through Organoid Based Screening

Advanced Science, EarlyView.
Human immune system (HIS) mice show limited B cell responses to immunization. Using HIS mouse spleen organoids, this study identifies cytokine combinations and innate immune signals that drive human B cell expansion, differentiation, and class‐switch. Applying these signals in vivo through temporal separation enables antigen‐specific IgG responses and ...
Haiqiao Sun, He Li, Xu Zhu, Zijian Zhang, Deshan Ren, Shuai Ding, Yan Li   +6 more
wiley   +1 more source

Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma

Frontiers in Oncology
Giant cell glioblastoma often exhibits genome instability and is frequently associated with mutations in genes involved in DNA repair pathways including TP53 and DNA mismatch repair genes.
Yongfeng Bi, Dong Wan, Dong Wan, Si Chen, Si Chen, Huafei Chen, Huafei Chen, Lingchuan Guo, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xiao   +13 more
doaj   +1 more source

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B

Case Reports in Endocrinology, 2015
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73.
Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, John V. Conaglen   +4 more
doaj   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

Paternal Caffeine Exposure Programs Offspring Stress Vulnerability via Sperm Dlk1‐Dio3 Imprinting‐Directed Remodeling of a Novel Neural Circuit

Advanced Science, EarlyView.
The study elucidates that paternal preconception stress can drive offspring hyperresponsivity of the stress system via hypomethylation of a specific DNA region in sperm. This key link is confirmed in a cohort of prospective fathers: the epigenetic alteration is associated with elevated stress hormone levels.
Mengxi Lu, Gaole Dai, Sen Zhu, Shuai Zhang, Tingting Wang, Yuan Meng, Fang Yang, Xiaoyi Han, Hui Wang, Hao Kou, Dan Xu   +10 more
wiley   +1 more source

Mutation rates and the evolution of germline structure [PDF]

Philosophical Transactions of the Royal Society B: Biological Sciences, 2015
Abstract Genome sequencing studies of de novo mutations in humans have revealed surprising incongruities with our understanding of human germline mutation. In particular, the mutation rate observed in modern humans is substantially lower than that estimated from calibration against ...
openaire   +2 more sources

Natural Resistance to Ovarian Hyperstimulation Syndrome in Estrildid Finches Reveals Macrophage GPR183 as a Potential Therapeutic Target

Advanced Science, EarlyView.
Ovarian macrophage depletion reverses OHSS resistance in estrildid finches and exacerbates OHSS symptoms in rats. Activating macrophage GPR183 alleviates OHSS by reducing pro‐inflammatory factors, increasing immunomodulatory molecules, remodeling CD44/SDC4‐mediated communication, and restoring immune homeostasis.
Xiaofei Yan, Yongjie Huang, Jiabao Yang, Su Ma, Songsong Liu, Xuan Huang, Juergen Brosius, Huaping Zheng, Bing Yao, Li Chen, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source

Pain correlates with germline mutation in schwannomatosis

Medicine, 2018
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain ...
Jordan, Justin, Cai, Wenli, Harris, Gordon, Bredella, Miriam, Gusella, James, Plotkin, Scott, Smith, Miriam J., Walker, James A., Erdin, Serkan, Talkowski, Michael E., Merker, Vanessa L., Ramesh, Vijaya, Seijo, Marlon, Suuberg, Alessandra   +13 more
openaire   +5 more sources

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. [PDF]

, 1996
Inherited pheochromocytomas are often part of familial syndromes, especially multiple endocrine neoplasia type 2 (MEN 2), retinal cerebellar hemangioblastomatosis [von Hippel-Lindau (vHL) disease] or neurofibromatosis type 1.
Crossey, P.A., Höppner, W., Engelhardt, D., Maher, E.R., Ritter, M.M., Frilling, A., Mulligan, L., Ponder, B.A.J.   +7 more
core   +1 more source

The RNA‐Binding Protein PARN Remodeled 3′ UTR Structure Defines Poly(A)‐Loading Sites to Mediate Immunoglobulin Homeostasis

Advanced Science, EarlyView.
ABSTRACT Class Switch Recombination (CSR) is essential for generating high‐affinity antibody isotypes from IgM during adaptive humoral responses. Despite well‐established roles for various transcription factors, whether CSR is subject to dedicated post‐transcriptional control represents a significant gap in knowledge.
Siyuan Sun, Chen Yang, Xiaoyu Wang, Naijing Hu, Shengyao Zhang, Xinchun Li, Yu Chen, Jianan Zhai, Xiangfeng Tang, Wei Lu, Chenxu Lu, Changchang Cao, Weiru Yu, Wenhao Wu, Xiaonan Nie, Fengchao Wang, Bing Fang, Fazheng Ren, Yixuan Li, Juan Chen   +19 more
wiley   +1 more source