Results 51 to 60 of about 2,066 (126)

Subtypes of multiple‐etiology dementias and the heterogeneous impact of APOE variants

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION Multiple‐etiology dementias (MEDs) are frequently identified at autopsy but often missed in clinical diagnosis, limiting the efficiency of dementia research and treatment. This study aimed to characterize subtypes of MEDs, evaluate clinical underdiagnosis, and assess the heterogeneous impact of apolipoprotein E (APOE) variants on ...
Elizabeth Pirraglia, Ricardo S. Osorio, Lidia Glodzik, Yibeltal Ashebir, Yongzhao Shao   +4 more
wiley   +1 more source

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

Frontiers in Endocrinology, 2017
BackgroundActivity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome.AimThe aim of this study was to provide a ...
Illana Gozes, Marc C. Patterson, Anke Van Dijck, R. Frank Kooy, Joseph N. Peeden, Jacob A. Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone   +7 more
doaj   +1 more source

Twenty years of therapeutic development in tauopathy mouse models: a scoping review

Alzheimer's &Dementia, Volume 21, Issue 8, August 2025.
Abstract Tauopathies are neurodegenerative diseases characterized by pathological tau protein inclusions and dementia. Tauopathy mouse models with MAPT mutations replicate tau‐related pathologies and are widely used for therapeutic research. This scoping review examines 409 treatment evaluations in MAPT mouse models.
Vanessa F. Langness, Danielle A. Simmons, Tyne L. M. McHugh, Robert R. Butler III, James Zhou, Harry Liu, Tao Yang, Lisa M. Ellerby, Frank M. Longo   +8 more
wiley   +1 more source

Linking autism risk genes to morphological and pharmaceutical screening by high‐content imaging: Future directions and opinion

Psychiatry and Clinical Neurosciences, Volume 79, Issue 8, Page 435-446, August 2025.
Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta, Yuichiro Watanabe, Jun Egawa, Vance P. Lemmon, Toshiyuki Someya   +4 more
wiley   +1 more source

Hypoxic Neural Stem Cells Enhance Spinal Cord Repair Through HIF‐1a/RAB17‐Driven Extracellular Vesicle Release

Journal of Extracellular Vesicles, Volume 14, Issue 7, July 2025.
Hypoxia, as a stress factor, can induce sEVs release of a large number of from stem cells through the HIF‐1α/RAB17 pathway, and promote the generation of beneficial cytokines, aiding in the repair of spinal cord injury. sEVs produced by neural stem cells under hypoxic conditions modified with CAQK/Angiopep2 targeting peptides offered a more effective ...
Tian Qin, Yiming Qin, Haicheng Wen, Tianding Wu, Chunyue Duan, Yong Cao, Yi Sun, Hongkang Zhou, Hongbin Lu, Liyuan Jiang, Jianzhong Hu, Chengjun Li   +11 more
wiley   +1 more source

Comparative Analysis of the Progesterone Receptor Interactome in the Human Ovarian Granulosa Cell Line KGN and Other Female Reproductive Cells

PROTEOMICS, Volume 25, Issue 13, July 2025.
ABSTRACT The nuclear steroid hormone receptor progesterone receptor (PGR) is expressed in granulosa cells in the ovarian follicle in a tightly regulated pattern in response to the surge of luteinizing hormone (LH) that stimulates ovulation. PGR plays a critical role in mediating ovulation in response to LH, however, the mechanism for this is still ...
Natalie J. Foot, Doan T. Dinh, Samantha J. Emery‐Corbin, Jumana M. Yousef, Laura F. Dagley, Darryl L. Russell   +5 more
wiley   +1 more source

Psychometric evaluation of the Autism Symptom Dimensions Questionnaire

Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 758-769, June 2025.
Comprehensive Evaluation of the Autism Symptom Dimensions Questionnaire (ASDQ). Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16229 This original article is commented by Bishop and Zheng on pages 697–698 of this issue. Abstract Aim To replicate and extend previous psychometric findings for the Autism Symptom Dimensions ...
Thomas W. Frazier, Anastasia Dimitropoulos, Leonard Abbeduto, Melissa Armstrong‐Brine, Shanna Kralovic, Andy Shih, Antonio Y. Hardan, Eric A. Youngstrom, Mirko Uljarević, on behalf of the Verbal Beginnings Team, Nick Chappell, Diana Wolf, Rebecca Womack   +12 more
wiley   +1 more source

Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity‐dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single‐gene causes of syndromic ASD.
Amelle Shillington, Ernest Pedapati, Robert Hopkin, Kristen Suhrie   +3 more
doaj   +1 more source

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Molecular Autism
Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome.
Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu   +12 more
doaj   +1 more source

Potential utility of ADNP in circulating tumor cells as biomarker for prognostics in non-muscle-invasive bladder cancer

Scientific Reports
This study aims to evaluate the prognostic utility of Activity-dependent neuroprotective protein (ADNP) expression in Circulating Tumor Cells (CTCs) inpatients with Non-muscle-invasive Bladder Cancer (NMIBC) undergoing Transurethral Resection of Bladder ...
Yuheng Wen, Zhihao Ming, Hong Li, Shuai Zhu, Jian Cao, Mingji Ye, Tian Gan, Xiangqun She, Yong Zeng, Yu Xie   +9 more
doaj   +1 more source