Results 71 to 80 of about 8,072 (166)

Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy

Advanced Science, Volume 12, Issue 29, August 7, 2025.
In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...
Xiaoxu Zhao, Tian Shen, Shengda Cao, Ziyi Liu, Wendu Pang, Meixuan Li, Jingjing Liu, Wen Li, Yunhao Wu, Chengcheng Liu, Ming Xia, Xiaolong Fu, Cheng Cheng   +12 more
wiley   +1 more source

Slc19a2: Cloning and Characterization of the Murine Thiamin Transporter cDNA and Genomic Sequence, the Orthologue of the Human TRMA Gene

Molecular Genetics and Metabolism, 2001
Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of 189 and 1857 bp, respectively.
K, Oishi, T, Hirai, B D, Gelb, G A, Diaz
openaire   +3 more sources

TRPC4 Mediates Trigeminal Neuropathic Pain via Ca2+‐ERK/P38‐ATF2 Pathway in the Trigeminal Ganglion of Mice

CNS Neuroscience &Therapeutics, Volume 31, Issue 4, April 2025.
The specific mechanism of trigeminal neuropathic pain (TNP) is not fully understood. Through the chronic constriction of the unilateral infraobital nerve (CION) mouse model, we found that nerve compression injury leads to increased expression levels of TRPC4, a sensory neuron in the trigeminal ganglion.
Xinlong Ke, Huajing Cai, Fangla Luo, Xing Zheng, Qian Hu, Youfa Zhou, Yongjie Wang, Xiangnan Zhang, Yeru Chen, Gang Chen   +9 more
wiley   +1 more source

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

, 2009
OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no.
L. Mathews, A. Bagg, E. Hexner, M. L. Ribeiro, I. Sahai, A. K. Bergmann, E. J. Neufeld, BORGNA, Caterina, L. Fabris, J. Fleming, K. J. Wierenga, J. F. Falcone, R. Casey   +12 more
core   +2 more sources

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

Journal of Diabetes Research, 2016
Aims. To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients. Methods.
Bingyan Cao, Chunxiu Gong, Di Wu, Chaoxia Lu, Fang Liu, Xiaojing Liu, Yingxian Zhang, Yi Gu, Zhan Qi, Xiaoqiao Li, Min Liu, Wenjing Li, Chang Su, Xuejun Liang, Mei Feng   +14 more
doaj   +1 more source

Association of rs970740 and rs6025 with SLC19A2 cg16548605 CpG and ACVn levels in the MARTHA study.

, 2014
Association is expressed as the additive effect of the minor alleles on the variability of cg16548605 and log ACVn (95% Confidence Interval) adjusted for age, sex, batch, chip and cell type composition. In the univariate analysis(1), one SNP at a time is
Pierre-Emmanuel Morange (161602), Martin Ladouceur (144366), David-Alexandre Trégouët (133741), Nora Zwingerman (635735), Jessica Dennis (635734), Marine Germain (161547), Tara A. Paton (635737), Ares Rocanin-Arjo (635736), France Gagnon (73555), Vinh Truong (207097), Dylan Aïssi (635733)   +10 more
core   +1 more source

METTL16 is Required for Meiotic Sex Chromosome Inactivation and DSB Formation and Recombination during Male Meiosis

Advanced Science, Volume 12, Issue 3, January 20, 2025.
METTL16 predominantly controls the expression of critical meiotic genes essential for DSB formation and recombination in early meiotic spermatocytes and is involved in the expansion of DNA damage response (DDR) factors and epigenetic modifications in the XY body for the establishment and maintenance of meiotic sex chromosome inactivation (MSCI) in ...
Lisha Yin, Nan Jiang, Wenjing Xiong, Shiyu Yang, Jin Zhang, Mengneng Xiong, Kuan Liu, Yuting Zhang, Xinxin Xiong, Yiqian Gui, Huihui Gao, Tao Li, Yi Li, Xiaoli Wang, Youzhi Zhang, Fengli Wang, Shuiqiao Yuan   +16 more
wiley   +1 more source

Role of specific cis-regulatory elements in the minimal region of the SLC19A2 and SLC19A3 promoters in mediating the effect of chronic exposure to NNK.

, 2013
The mutated NNK-responsive minimal region of the SLC19A2 (A) and SLC19A3 (B) promoters in pGL3-Basic were transiently transfected into 266-6 cells and the luciferase assays was determined.
Veedamali S. Subramanian (452244), Padmanabhan Srinivasan (481324), Hamid M. Said (385809)   +2 more
core   +1 more source

Neonatal diabetes mellitus around the world: Update 2024

Journal of Diabetes Investigation, Volume 15, Issue 12, Page 1711-1724, December 2024.
Between 2018 and early 2024, six brand new NDM‐genes have been discovered and 3 genes known to cause different diseases were identified as NDM‐genes. Currently NDM genes' list exceeds forty.This genetic heterogeneity translates into many different mechanism(s) of disease that are investigated with state‐of‐the‐art methodologies, such as induced ...
Fabrizio Barbetti, Asma Deeb, Shigeru Suzuki   +2 more
wiley   +1 more source

Association⁽¹⁾ of SLC19A2CpG sites with rs6025 (FV Leiden mutation) in the discovery and replication studies.

, 2014
(1) Association is expressed as methylation β-value mean (SE) in carriers and non-carriers.(2) Reported p-values were those derived from a linear regression model where the probe methylation level was the outcome and the carrier status the covariate ...
Pierre-Emmanuel Morange (161602), Martin Ladouceur (144366), David-Alexandre Trégouët (133741), Nora Zwingerman (635735), Jessica Dennis (635734), Marine Germain (161547), Tara A. Paton (635737), Ares Rocanin-Arjo (635736), France Gagnon (73555), Vinh Truong (207097), Dylan Aïssi (635733)   +10 more
core   +1 more source