Results 121 to 130 of about 4,202,493 (246)

DUET‐seq: An Open‐Source Droplet Platform for High‐Fidelity Joint Chromatin and Transcriptome Profiling Reveals Temporal Regulatory Decoupling in Single Cells

Advanced Science, EarlyView.
DUET‐seq is an open‐source droplet platform that jointly profiles chromatin accessibility and gene expression from the same nucleus. Dissolvable dual‐linker hydrogel beads and a one‐step intra‐droplet RT‐PCR co‐index both modalities in under 12 h at roughly $0.04 per cell.
Dong Cheng, Zijun Meng, Lan Wei, Pingjing Yang, Fanfan Zhang, Zhiyi Luo, Ting Lai, Chunli Li, Mengyao Zhao, Mengqin Xu, Jiaqi Wang, Linjun Li, Huarong Chen, Jin Li, Ailong Huang, Youquan Bu, Liuyang Zhao   +16 more
wiley   +1 more source

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Neonatal Sevoflurane Exposure Induces Long‐Term Cognitive Impairment via Epigenetically Mediated MMP9 Activation and Perineuronal Net Disruption in the Hippocampal CA2

Advanced Science, EarlyView.
Hippocampal CA2 perineuronal nets ensheathing excitatory pyramidal neurons are selectively vulnerable to repeated neonatal sevoflurane exposure. Epigenetic upregulation of MMP9 via reduced H3K27me3 disrupts PNN integrity, impairs BDNF–TrkB signaling, and causes synaptic protein loss and dendritic spine deficits, leading to persistent social and spatial
Lirong Liang, Jiachen Wang, Taozhi Wang, Yanling Li, Youyi Zhao, Guanghui Hao, Peiqin Gong, Ruling Chen, Yilin Fang, Shengxi Wu, Haopeng Zhang, Hui Zhang   +11 more
wiley   +1 more source

Early‐Life Manganese Overexposure Activates Microglial Phagocytosis through the YY1/TREM2 Axis Leading to Hippocampal Synaptic Remodeling in Mice

Advanced Science, EarlyView.
Early‐life manganese exposure induces behavioral deficits and aberrant hippocampal synaptic remodeling by enhancing microglial phagocytosis in young adult male mice. Mechanistically, manganese promotes Yin Yang 1 (YY1)/triggering receptor expressed on myeloid cells 2 (TREM2) signaling through enhanced HIF1α‐mediated transcription and suppressed SMURF2 ...
Keyu Chen, Bin He, Kuan Liu, Zhuo Ma, Bin Xu   +4 more
wiley   +1 more source

ELF5‐Mediated Enhancer–Promoter Interaction Regulates LALBA Expression in Ovine Mammary Gland

Advanced Science, EarlyView.
In the study, we systematically investigate the epigenetic mechanisms underlying lactation traits in sheep by integrating transcriptomic, chromatin accessibility, histone modification, and functional analyses. We identify a super‐enhancer at the LALBA locus and demonstrate that enhancer E4 functions as its core regulatory element.
Xinmiao Wu, Jiqing Wang, Zhiyun Hao, Mingna Li, Huimin Zhen, Yuan Liu, Guoyong Zhao, Chunyan Ren, Xuelan Zhou, Haixiong Hu, Mingjie Li, Nan Shi   +11 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source