Results 51 to 60 of about 2,855 (182)

Cumulative effects of lifelong systemic excess growth hormone on postcranial skeletal morphology in adult mice

Journal of Anatomy, EarlyView.
Our μCT‐based pilot study reveals size and shape disparity in the adult postcranial skeleton of growth‐hormone model (bGH) mice relative to wild‐type mice. bGH mice have larger and more sexually dimorphic bones, with a systemic radiodensity increase in bony sesamoids and associated, but typically uncalcified, soft tissues.
Joseph R. Groenke, Huanhuan Liu, Grace Lach, Abhishek Wajpe, Darlene Berryman, John J. Kopchick, Shouan Zhu, Patrick M. O'Connor   +7 more
wiley   +1 more source

Seizures as an Atypical Feature of Beal’s Syndrome

Sultan Qaboos University Medical Journal, 2016
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23.
Nazreen B. K. Jaman, Abeer Al-Sayegh
doaj   +1 more source

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Frontiers in Genetics, 2022
Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD.
Renle Guo, Renle Guo, Pengcheng Du, Yifei Pei, Jin Yang, Shuangshuang Li, Sheng Chang, Huiying Sun, Xiaomin He, Jian Dong, Jian Dong, Jian Zhou, Zaiping Jing   +12 more
doaj   +1 more source

An Integrated Proteomics and Genomics Approach to Identify Essential Protein Kinases During Human Trophoblast Development

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Integrated quantitative proteomic, phosphoproteomic, and transcriptomic analyses of human trophoblast stem cells identify stage‐specific kinase signaling networks that regulate trophoblast self‐renewal and differentiation into syncytiotrophoblasts and extravillous trophoblasts.
Rajnish Kumar, Purbasa Dasgupta, Soma Ray, Soumen Paul   +3 more
wiley   +1 more source

Congenital contractural arachnodactyly (Beals syndrome)

Orphanet Journal of Rare Diseases, 2006
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Alanay Yasemin, Tunçbilek Ergül
doaj   +1 more source

Integrative Transcriptomic Profiling Delineates LTBP4‐Driven Fibroblast Reprogramming Across the Ossification Continuum of the Ligamentum Flavum

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
This study delineates the dynamic transcriptomic landscape of OLF across normal, immature, and mature stages via RNA‐seq. LTBP4 shows progressive downregulation and is validated in external datasets. Single‐cell and spatial transcriptomics identify fibroblasts as the cellular source.
Xiao Zhang, Tengyao Niu, Yulong Zhao, Zhenguo Liu, Wenbo Gu, Donghui Cao, Yanrong Tian, Haifeng Yuan   +7 more
wiley   +1 more source

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

Disease Models & Mechanisms, 2015
Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint ...
Dirk Hubmacher, Lauren W. Wang, Robert P. Mecham, Dieter P. Reinhardt, Suneel S. Apte   +4 more
doaj   +1 more source

Downregulation of growth plate genes involved with the onset of femoral head separation in young broilers

Frontiers in Physiology, 2022
Femoral head separation (FHS) is characterized by the detachment of growth plate (GP) and articular cartilage, occurring in tibia and femur. However, the molecular mechanisms involved with this condition are not completely understood.
Adriana Mércia Guaratini Ibelli, Adriana Mércia Guaratini Ibelli, Jane de Oliveira Peixoto, Jane de Oliveira Peixoto, Ricardo Zanella, João José de Simoni Gouveia, Maurício Egídio Cantão, Luiz Lehmann Coutinho, Jorge Augusto Petroli Marchesi, Mariane Spudeit dal Pizzol, Débora Ester Petry Marcelino, Mônica Corrêa Ledur, Mônica Corrêa Ledur   +12 more
doaj   +1 more source

Transcription and Three‐Dimensional Genome Organization: Cause, Consequence, or Coordination?

BioEssays, Volume 48, Issue 9, September 2026.
Transcription and 3D genome organization influence each other across spatial scales. Large‐scale architecture provides a relatively stable framework, while transcription and shared architectural factors refine local chromatin loops and domain boundaries. Specific long‐range interactions between regulatory elements and distal anchors can override domain‐
Dagyeong Yang, Elissa P. Lei
wiley   +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