Article
Multidisciplinary Sciences
Lizhong Liu, Anastasiia Nemashkalo, Luisa Rezende, Ji Yoon Jung, Sapna Chhabra, M. Cecilia Guerra, Idse Heemskerk, Aryeh Warmflash
Summary: This study visualizes the activity of endogenous Nodal protein in living cells using a human gastruloid model and reveals that Nodal activity spreads through a relay mechanism, with timing controlled by the Nodal inhibitor Lefty. This study provides insights into how morphogen gradients are formed and interpreted during mammalian embryogenesis.
NATURE COMMUNICATIONS
(2022)
Review
Pediatrics
Zi Qiang Glen Liau, Yuhang Wang, Hong-Yi Lin, Chin Kai Cheong, Shobhit Gupta, James Hoi Po Hui
Summary: This review discusses the management of pediatric short stature, particularly in the case of disproportionate short stature caused by skeletal dysplasia. Early recognition of short stature and appropriate referrals can help alleviate parental concern and provide comprehensive care for improved quality of life. Advancements in clinical diagnostic tools and treatment options provide optimism for managing pediatric short stature.
CURRENT OPINION IN PEDIATRICS
(2022)
Article
Geriatrics & Gerontology
Yichen Yao, Xin Wang, Lichieh Lin, Xiaolei Zhang, Yan Wang
Summary: Genetic studies have revealed the association between ROR2 mutation and Robinow syndrome, a rare skeletal dysplasia. By establishing a conditional knockout system, researchers observed skeletal abnormalities, inhibited chondrocyte differentiation and proliferation, and reduced osteoblast differentiation in mice. Further analysis indicated decreased BMP/TGF-beta signaling and disrupted cell polarity in the growth plate, providing insights into the molecular mechanisms of skeletal dysplasia.
Article
Orthopedics
Noor ul Ain, Zunaira Fatima, Sadaf Naz, Outi Makitie
Summary: This study identified genetic variants in two unrelated consanguineous families with skeletal dysplasia and short stature, showcasing different phenotypic characteristics. The findings expand the genotypic spectrum of RAB33B variants and highlight the phenotypic homogeneity of patients with PCNT variants.
BMC MUSCULOSKELETAL DISORDERS
(2021)
Article
Developmental Biology
Shunji Jia, Anming Meng
Summary: The TGF beta signaling family is evolutionarily conserved in metazoans and plays diverse roles in embryonic development, adult tissue homeostasis, and human diseases by regulating cell proliferation, differentiation, adhesion, migration, and apoptosis. The molecular mechanisms and key functions of TGF beta subfamily pathways in mesendoderm induction, dorsoventral patterning, laterality development, and tissue/organ formation have been extensively investigated.
Review
Biochemistry & Molecular Biology
Wiktoria Wrobel, Emilia Pach, Iwona Ben-Skowronek
Summary: Achondroplasia is a genetic disorder caused by a mutation in the FGFR3 gene, leading to short stature. Treatment is necessary to improve quality of life and reduce complications, with recombinant human growth hormone being the current best option. Other drugs are still in early stages of clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Xi Li, Xinwen Li, Wenhao Li, Yingqing Zhang, Haiyan Guo, Guangxing Wang, Yayuan Li, Xiaowen Wu, Ruiqin Hu, Siyu Wang, Xiaomiao Zhao, Liangbiao Chen, Guijun Guan
Summary: The study reveals the important role of gsdf in meiotic entry in medaka by analyzing gametogenesis in gsdf-deficient gonads. The deficiency of gsdf leads to abnormal expression of genes like Sycp3, causing disruption of normal gametogenesis processes. This finding is supported by immunofluorescence analysis and transmission electron microscope observations.
Article
Cardiac & Cardiovascular Systems
Chen Wang, Yuanming Xing, Jiao Zhang, Ming He, Jianjie Dong, Shanshan Chen, Haoyu Wu, Hsi-Yuan Huang, Chih-Hung Chou, Liang Bai, Fangzhou He, Jianqing She, Ailing Su, Youhua Wang, Patricia A. Thistlethwaite, Hsien-Da Huang, Jason X-J Yuan, Zu-Yi Yuan, John Y-J Shyy
Summary: The dysregulated BMP/TGF-beta signaling pathways play a crucial role in pulmonary arterial hypertension (PAH) and pulmonary hypertension (PH). MED1 and KLF4 collaboratively regulate BMPR2, ERG, and TGFBR2, highlighting the importance of their synergistic effect in maintaining pulmonary endothelial function. Dysregulation of MED1 contributes to impaired BMP/TGF-beta signaling and disease progression in PAH and PH.
CIRCULATION RESEARCH
(2022)
Article
Genetics & Heredity
Sandra Hoffmann, Ralph Roeth, Sabrina Diebold, Jasmin Gogel, David Hassel, Steffen Just, Gudrun A. Rappold
Summary: SHOX deficiency leads to a range of clinical phenotypes, including skeletal dysplasia and short stature. By analyzing differentially expressed genes, novel SHOX target genes were identified. Validation in zebrafish models showed dysregulation of multiple genes in shox-deficient pectoral fins, indicating their importance in SHOX-related growth disorders.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Senem Aykul, Jordan Maust, Vijayalakshmi Thamilselvan, Monique Floer, Erik Martinez-Hackert
Summary: The study revealed the significant regulatory role of TGF-beta family growth factors and inhibitors in adipocyte development, with SMAD1/5/8 signaling playing a crucial role in 3T3-L1 adipogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell & Tissue Engineering
Shan-Chuang Chen, Tao Jiang, Qi-Yu Liu, Zi-Tao Liu, Yu-Fei Su, Hai-Tao Su
Summary: This study demonstrates that hsa_circ_0001485 plays a crucial role in osteogenic differentiation. The circRNA activates the TGF beta-BMP pathway by targeting BMPR2, thereby positively regulating osteogenic differentiation.
STEM CELL RESEARCH & THERAPY
(2022)
Article
Cell Biology
Baoheng Gui, Chenxi Yu, Xiaoxin Li, Sen Zhao, Hengqiang Zhao, Zihui Yan, Xi Cheng, Jiachen Lin, Haiyang Zheng, Jiashen Shao, Zhengye Zhao, Lina Zhao, Yuchen Niu, Zhi Zhao, Huizi Wang, Bobo Xie, Xianda Wei, Chunrong Gui, Chuan Li, Shaoke Chen, Yi Wang, Yanning Song, Chunxiu Gong, Terry Jianguo Zhang, Xin Fan, Zhihong Wu, Yujun Chen, Nan Wu
Summary: This study investigated the mutational spectrum of ROR2 in children with short stature and identified several mutations that potentially disrupt the expression of downstream genes in the Wnt5a-ROR2 pathway by affecting protein subcellular localization and expression.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Erik Martinez-Hackert, Anders Sundan, Toril Holien
Summary: The TGF-beta family is a group of structurally related, multifunctional growth factors crucially involved in the development, regulation, and maintenance of animal tissues. These ligands exhibit promiscuity and compete with each other for binding to receptors, possibly allowing cells to process multiple ligand inputs for subtle, distinctive, or adaptive responses and developmental plasticity. This concept of ligand competition may be fundamentally tied to human physiology, disease, and therapy.
CYTOKINE & GROWTH FACTOR REVIEWS
(2021)
Review
Pediatrics
Janet M. Legare, Donald Basel
Summary: Children with short stature due to skeletal dysplasia are often referred to pediatric endocrinologists. This primer presents information on when to be concerned about skeletal dysplasia, how to evaluate it, and recent and upcoming therapies.
FRONTIERS IN PEDIATRICS
(2023)
Review
Endocrinology & Metabolism
John Garcia, Anne M. Delany
Summary: This review highlights the role of miRNAs in regulating bone forming osteoblasts through their effects on the TGF beta and BMP pathways. By targeting ligands, receptors, and SMAD-mediated signaling, miRNAs contribute to the modulation of TGF beta and BMP signaling in the osteoblast lineage, which may have implications for potential therapeutic strategies. Induced during fracture, mechanical unloading, or estrogen deprivation, many of these miRNAs could potentially be used for localized delivery of therapeutics to promote bone formation.
