Results 71 to 80 of about 9,183 (184)

Evaluation of asprosin levels in growth hormone-deficient children [PDF]

Journal of Krishna Institute of Medical Sciences University
Background: Growth Hormone Deficiency (GHD) in children is a rare endocrine condition characterized by a low GH secretion that minimizes the secretion of growth factors such as Insulin-Like Growth Factor-I (IGF-I).
Safaa Ehssan Atta, Marwa Ali Hadi, Omar Yasir Shakir, Karam Gharab, Isam Noori Salman   +4 more
doaj  

Comprehensive Prediction of FBN1 Targeting miRNAs: A Systems Biology Approach for Marfan Syndrome

Gazi Medical Journal
Objective: Marfan syndrome (MFS) is a genetic connective tissue disorder primarily caused by mutations in the FBN1 gene. Emerging evidence highlights the regulatory role of microRNAs (miRNAs) in modulating gene expression in MFS, but a systematic ...
Mehmet Emin Orhan, Yılmaz Mehmet Demirci, Müşerref Duygu Saçar Demirci   +2 more
doaj   +1 more source

Comprehensive Quantification of Oligoasthenozoospermia Induced by Obesity, Reproductive Toxicants, and Their Combination in Rat Models

Andrology, Volume 14, Issue 6, Page 1535-1551, September 2026.
ABSTRACT Background Oligoasthenozoospermia is a leading cause of male infertility and has been increasingly associated with the global surge in obesity and exposure to reproductive toxicants. Despite extensive research on each factor individually, their combined pathological effects remain poorly understood.
Yunlong Yao, Xi Zhang, Lingru Li, Yunzhi Zhang, Shuo Huang, Yulin Zong, Mingrui Li, Fufangyu Zhao, Linghui Zhu, Tianxing Li, Wenlong Sun, Mingyan Shao, Yanfei Zheng   +12 more
wiley   +1 more source

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Molecular Genetics & Genomic Medicine, 2020
Background The molecular and genetic mechanisms by which different single nucleotide variant alleles in specific genes, or at the same genetic locus, cause distinct disease phenotypes often remain unclear. Allelic truncating mutations of FBN1 could cause
Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M. B. Carvalho, Jennifer E. Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, James R. Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu   +36 more
doaj   +1 more source

The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception

Journal of Anatomy, Volume 249, Issue 3, Page 528-543, September 2026.
In this study we show for the first time that the human basilar membrane contains elastin produced by the so‐called tympanic covering layer. It is believed to play an important functional role in human cochlear tuning, particularly low frequencies linked to our remarkable speech and music perception.
Wei Liu, Claudia Steinacher, Alexander Glueckert, Rudolf Glueckert, Hao Li, Karin Staxäng, Anneliese Schrott‐Fischer, Hanif M. Ladak, Sumit Agrawal, Helge Rask‐Andersen   +9 more
wiley   +1 more source

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

BMC Medical Genomics
Background Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1
Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu   +7 more
doaj   +1 more source

Gene‐Based Clustering Identifies QSOX1 and IL1RAP as Biomarkers of Metabolic Dysfunction‐Associated Steatotic Liver Disease

Liver International, Volume 46, Issue 9, September 2026.
ABSTRACT Background and Aims Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a progressive liver disease that ranges from simple steatosis to inflammation, fibrosis and cirrhosis. To address the unmet need for new MASLD biomarkers, we aimed to identify candidate biomarkers using publicly available RNA sequencing (RNA‐seq) and ...
Wenfeng Ma, Jinrong Huang, Benqiang Cai, Mumin Shao, Xuewen Yu, Mikkel Breinholt Kjær, Minling Lv, Xin Zhong, Shaomin Xu, Bolin Zhan, Qun Li, Qi Huang, Mengqing Ma, Lei Cheng, Yonglun Luo, Henning Grønbæk, Xiaozhou Zhou, Lin Lin   +17 more
wiley   +1 more source

Natural Agents for Preventing Skin Damage Induced by Visible Light: A Systematic Review of Preclinical and Clinical Evidence

Photodermatology, Photoimmunology &Photomedicine, Volume 42, Issue 5, September 2026.
ABSTRACT Background/Purpose Visible light (VL), and particularly high‐energy visible light (HEVL), reaching Earth's surface has emerged as a relevant contributor to skin damage. VL has been implicated in oxidative stress, inflammation, pigmentation disorders, and photoaging, especially in individuals with darker skin phototypes.
Azahara Rodríguez‐Luna, Alicia Zamarrón, Cristina García‐Muñoz, Juan‐Carlos Hernández‐Rodríguez, Henry W. Lim, Salvador González   +5 more
wiley   +1 more source

Structural Restoration of an Unruptured Vertebral Artery Dissection Following Autologous Mesenchymal Stem Cell Therapy: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Vertebral artery dissection (VAD) is a recognized cause of ischemic stroke, and current management relies on antithrombotic therapy that is not specifically directed at structural repair of the arterial wall. We report a man in his mid‐50s who presented with a sudden, severe right occipital headache after a golf swing and had a history of a ...
Hyungchang Kang, Eung Jae Lee, Moon Hyoung Lee, Hyun Soo Kim   +3 more
wiley   +1 more source

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Global Medical Genetics, 2020
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan   +5 more
doaj   +1 more source