Results 151 to 160 of about 226,271 (312)

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Myo‐Inositol Mitigates Oxidative Stress in Bovine Mammary Epithelial Cells via Activation of the SIRT5/Nrf2 Signaling Axis

Animal Research and One Health, EarlyView.
Myo‐inositol alleviates oxidative stress in dairy cow mammary epithelial cells via the Sirt5/Nrf2 pathway to promote mitochondrial fusion. This graphical abstract was created with BioRender.com. ABSTRACT High‐yielding dairy cows are susceptible to mammary gland oxidative stress due to prolonged intensive lactation, leading to redox imbalance.
Yufei Zhang, Yu Cao, Meng Zhang, Huijie Hu, He Ma, Junlong Bi, Juxiong Liu, Shoupeng Fu, Wenjin Guo   +8 more
wiley   +1 more source

Gut Health in Ostriches (Struthio camelus): Insights Into Intestinal Structure, Functions, Microbiome, and Improvement Strategies

Animal Research and One Health, EarlyView.
Our paper systematically reviews the intestinal structure, function, and microbiota of ostriches, along with strategies for improving their gut health. We analyze how these factors collectively influence intestinal homeostasis and ostrich welfare, emphasizing probiotics as a promising intervention to enhance gut health, boost population well‐being, and
Zi‐Qun Zhang, Fang‐Fang Guo, Wen‐Juan Du, Meng Li, Aftab Shaukat, Zhu‐Qing Jia, Shu‐Cheng Huang   +6 more
wiley   +1 more source

Cutaneous manifestations-associated with tuberous sclerosis complex and the use of topical rapamycin in the United States: a sub-analysis of an international survey of caregivers and patients

Orphanet Journal of Rare Diseases
Background This analysis was aimed to characterize cutaneous manifestations associated with tuberous sclerosis complex (TSC) and management of facial angiofibroma in the United States from a patient/caregiver perspective.
Sreedevi Boggarapu, Gabrielle Rushing, Ashley Pounders, Steven L. Roberds, Eric Beresford   +4 more
doaj   +1 more source

MicroRNA‐Seq Analysis Reveals a Critical Role for miR‐222 in Bovine Intramuscular Adipogenesis via the DDIT4/mTORC1 Axis

Animal Research and One Health, EarlyView.
Schematic diagram illustrating how miR‐222 promotes bovine intramuscular adipogenesis by targeting DDIT4 to activate the mTORC1 signaling pathway. ABSTRACT Intramuscular fat (IMF) is a key determinant of beef quality, particularly with respect to tenderness, flavor, and juiciness.
Jianbing Tan, Liang Qiu, Zhenghai Zhou, Zhipeng Zhang, Nanfei Wang, Jiangang Hao, Linsen Zan, Wucai Yang   +7 more
wiley   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Molecular Stratification of Antiphospholipid Syndrome Through Integrative Analysis of the Whole‐Blood RNA Transcriptome

Arthritis &Rheumatology, EarlyView.
Objective Antiphospholipid syndrome (APS) is a thromboinflammatory disorder characterized by clinical and mechanistic heterogeneity that complicates early diagnosis and hinders targeted treatment. We aimed to identify distinct molecular endotypes among antiphospholipid antibody (aPL)–positive patients using whole‐blood transcriptomics.
Amala Ambati, Feiyang Ma, Katarina Kmetova, Sherwin Navaz, Claire K. Hoy, Cyrus Sarosh, Ajay Tambralli, Erika Navarro‐Mendoza, Johann E. Gudjonsson, J. Michelle Kahlenberg, Jacqueline A. Madison, Alí Duarte‐García, Jason S. Knight, Yu Zuo   +13 more
wiley   +1 more source

Dual Action of Dipyridamole in Experimental Rheumatoid Arthritis: Suppression of Joint Inflammation and Upregulation of Muscle Anabolism via Adenosine and AMPK pathways

Arthritis &Rheumatology, Accepted Article.
Introduction Rheumatoid sarcopenia, characterized by the progressive loss of skeletal muscle mass and function, is a frequent comorbidity in rheumatoid arthritis (RA), linked to prolonged, severe systemic inflammation. Purinergic signaling (adenosine, AMP, and ATP) plays a crucial role in inflammation, myogenesis, and muscle hypertrophy.
Miguel Marco‐Bonilla, Maria Fresnadillo, Irene Sanchez‐Platero, Macarena de la Riva‐Bueno, Fernando Huete‐Toral, Gonzalo Carracedo, Carmen Conde, Yolanda Benitez, Pablo Minguez, Sandra Carolina Cifuentes, Joaquin Rams, Gabriel Herrero‐Beaumont, Raquel Largo, Aránzazu Mediero   +13 more
wiley   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source