Results 11 to 20 of about 99 (99)

Amino Acid‐Sensing Neurons in the Anterior Piriform Cortex Control Brown Adipose Tissue Thermogenesis

Advanced Science, EarlyView.
This study identifies a class of amino acid‐sensing neurons, APCCRH neurons, which regulate BAT thermogenesis. Leucine deficiency alters intrinsic excitability through GCN2 signaling pathway, activating APCCRH neurons, which in turn regulate BAT thermogenesis via projections to the lateral hypothalamus.
Peixiang Luo, Kexin Tong, Yeting Gan, Min Tang, Yuguo Niu, Kan Liu, Shihong Ni, Shangming Wu, Xiaoxue Jiang, Haizhou Jiang, Fei Xiao, Shanghai Chen, Wei Lv, Xiaoying Li, Feixiang Yuan, Feifan Guo   +15 more
wiley   +1 more source

Gut Microbiota Modulates Obesity‐Associated Skeletal Deterioration Through Macrophage Aging and Grancalcin Secretion

Advanced Science, EarlyView.
Obese gut‐microbiota derived lipopolysaccharides (LPS) induce bone marrow macrophage senescence and GCA secretion via activating TLR4/NF‐κB/MAPKs pathway. Clinically, obese patients are associated with higher serum GCA levels. Mice with depletion of GCA gene show resistance to skeletal deterioration caused by obesity and LPS‐induced chronic ...
Min Huang, Mei Huang, Ling Liu, Fang Yang, Chen He, Yu‐Chen Sun, Yu‐Rui Jiao, Xiang Tang, Jing Hou, Kai‐Xuan Chen, Wen‐Zhen He, Jie Wei, Hui‐Ling Chen, Xia Li, Chao Zeng, Guang‐Hua Lei, Chang‐Jun Li   +16 more
wiley   +1 more source

Multiscale Organization of Neural Networks in a 3D Bioprinted Matrix

Advanced Science, EarlyView.
A 3D bioprint model of primary neurons has been engineered with a millimeter‐scale functional neural network, and it recapitulates in vivo transcriptomic features under both normal and disease conditions to the greatest extent. The successful integration of mature neurons and 3D bioprinting signifies a major advance in neuroscience modeling ...
Huiyu Yang, Jiangang Zhang, Yiran Li, Zihan Zhong, Wenhua Li, Haojun Luo, Yanyong Liu, Liujian Ouyang, Zhuoran Jiang, Yuning Sun, Hang Sun, Lulu Liu, Huayu Yang, Yu Wang, Nan Yang, Wenbin Ma, Yilei Mao   +16 more
wiley   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source