Results 171 to 180 of about 3,786,126 (364)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3 [PDF]

, 2000
Dan Rujescu, Armin Szegedi, Ion Anghelescu, Ina Giegling, Anton Gietl, Martin Schäfer, F. Müller-Siecheneder, Brigitta Bondy, H.‐J. Möller, Norbert Dahmen   +9 more
openalex   +1 more source

FBXO2 Alleviates Intervertebral Disc Degeneration via Dual Mechanisms: Activating PINK1‐Parkin Mitophagy and Ubiquitinating LCN2 to Suppress Ferroptosis

Advanced Science, EarlyView.
F‐box only protein 2 (FBXO2) combats intervertebral disc degeneration (IVDD) by coordinating dual protection. It activates PTEN‐induced putative kinase 1 (PINK1)‐Parkin mitophagy restoring mitochondrial function and targets lipocalin‐2 (LCN2) for degradation, suppressing ferroptosis.
Tongde Wu, Yanjin Wang, Beiduo Shen, Kai Guo, Ziqi Zhu, Yongzhou Liang, Jianhua Zeng, Desheng Wu   +7 more
wiley   +1 more source

Study on Reproductive Disorders Related to Chromosome Abnormalities in Domestic Animals

, 1996
Yoh-Ichi MIYAKE
openalex   +2 more sources

Intermediate Filament Protein BFSP2 Controls Spindle Formation via HSC70‐Mediated Stabilization of CLTC During Oocyte meiosis

Advanced Science, EarlyView.
Meiosis is a specialized form of cell division that has different regulation and mechanisms with mitosis in numerous aspects. Particularly, meiosis I is unique and occurs only in germ cells to separate homologous chromosomes. Thus, determining how this unusual chromosome segregation behavior is established is central to understanding germ cell ...
Yu Li, Zihao Zhang, Yu Zhang, Bo Xiong
wiley   +1 more source

The t(2;5) chromosomal translocation is not a common feature of primary cutaneous CD30+ lymphoproliferative disorders: comparison with anaplastic large-cell lymphoma of nodal origin [see comments]

, 1996
JF DeCoteau, JR Butmarc, MC Kinney, ME Kadin   +3 more
openalex   +1 more source

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia [PDF]

, 2001
Margaret J. Kovach, Brook Waggoner, Suzanne M. Leal, David A. Gelber, Romesh Khardori, Mark A. Levenstien, Christy A. Shanks, Gregory Gregg, Muhammad Al‐Lozi, Timothy M. Miller, Wojtek Rakowicz, Glenn Lopate, Juliane Florence, Guila Glosser, Zachary Simmons, John C. Morris, Michael P. Whyte, Alan Pestronk, Virginia Kimonis   +18 more
openalex   +1 more source

ACSS2/AATF Drives Soluble FasL‐Mediated CD8+ T Cell Apoptosis in Pancreatic Neuroendocrine Tumors

Advanced Science, EarlyView.
This study unveils that ACSS2‐driven acetate metabolism fuels histone pan‐acetylation in pancreatic neuroendocrine tumors (PNETs), remodeling the epigenetic landscape. The ACSS2/AATF axis transcriptionally activates soluble FasL (sFasL), which engages Fas receptors on infiltrating CD8+ T cells to trigger caspase‐8/3‐mediated apoptosis.
Qin Dang, Ting Wang, Yan Wang, Zeng Ye, Borui Li, Xuan Pan, Zheng Li, Guixiong Fan, Desheng Jing, Junfeng Xu, Qiangsheng Hu, Shunrong Ji, Xiaowu Xu, Xianjun Yu, Yi Qin   +14 more
wiley   +1 more source

A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25–q26 [PDF]

, 2001
Sven Cichon, Gabriele Schmidt‐Wolf, J Schumacher, D Müller, Martina Hürter, Thomas G. Schulze, Margot Albus, Margitta Borrmann-Hassenbach, Ernst Franzek, M. Lanczik, J. Fritze, R. Kreiner, Bettina Weigelt, Jürgen Minges, Dirk Lichtermann, Bernard Lerer, Kyra Kanyas, Konstantin Strauch, Christine Windemuth, Max P. Baur, T. F. Wienker, Wolfgang Maier, Marcella Rietschel, Peter Propping, Markus M. Nöthen   +24 more
openalex   +1 more source

Hepatic CBP/p300 Orchestrate Amino Acid‐Driven Gluconeogenesis through Histone Crotonylation

Advanced Science, EarlyView.
Hepatic CBP/p300 control amino acid‐driven gluconeogenesis by modulating histone crotonylation. This study identifies 2‐aminoadipate (2‐AAA) as a key metabolite that enhances crotonylation and activates amino acid and gluconeogenic gene expression.
Chunxiang Sheng, Tianjiao Li, Hong Lin, Xiaoqin Ma, Feiye Zhou, Mingzhu Li, Yiru Wang, Shushu Wang, Jialin Tan, Junmin Chen, Yulin Yang, Jianmin Liu, Yufang Bi, Jieli Lu, Xiao Wang, Libin Zhou   +15 more
wiley   +1 more source