Results 91 to 100 of about 104,390 (258)
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells
Animal Models and Experimental Medicine, EarlyView.The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study compared hypertrophic scar (HS) formation in SD rats at ear, back, and tail sites with or without mechanical tension. The ear model healed spontaneously by day 30. Dorsal full‐thickness excision (1 × 8 cm) produced moderate HS. In contrast, the tail tension model showed the greatest scar thickness, fibroblast density, collagen deposition ...
Lingyi Zhan +10 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Phenylhydrazine (PHZ) induces hemolytic anemia characterized by increased erythrocyte destruction and ineffective erythropoiesis, leading to hepcidin suppression through disruption of the BMP/SMAD signaling pathway. Reduced hepcidin levels enhance intestinal iron absorption and hepatic iron accumulation, leading to hepatic iron overload.
Mohammad Indra Pratama +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu +4 more
wiley +1 more source
Animal Research and One Health, EarlyView.This study delineates the early sex differentiation timeline in the northern snakehead (Channa argus). These findings provide a foundation for future sex‐control breeding in this economically important species. ABSTRACT The northern snakehead (Channa argus) is an economically important aquaculture species in China.
Chaonan Sun +6 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Dermal systemic sclerosis (SSc) fibroblasts and their exosomes can activate keratinocytes in SSc, with long noncoding RNA (lncRNA) H19 highlighted as the most up‐regulated RNA in their cargo compared with healthy controls (HCs). The role of H19 in SSc pathogenesis has never been investigated.
Begoña Caballero‐Ruiz +3 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Members of the superfamily of nuclear receptors have been implicated in inflammatory processes and pathologic tissue remodeling and have emerged as attractive targets for pharmaceutical intervention. However, the role of testicular receptor 4 (TR4; or Nr2c2) in fibroblast activation and rheumatologic diseases has not yet been investigated ...
Yun Zhang +16 more
wiley +1 more source