Results 211 to 220 of about 2,974,657 (301)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Standardized horse hoof photography and documentation

Journal of Sports Medicine, Animal Rehabilitation and Physiotherapy
Paulo Haas, Benedikt Winter, Verena Deserno, Thomas M. Deserno   +3 more
openaire   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Vapor‐Phase Grain‐Boundary Anchoring Enables Molecular Toughening and Record Bending Endurance in Pilot‐Scale Roll‐to‐Roll‐Printed Flexible Perovskite Modules

Angewandte Chemie, EarlyView.
A vapor‐phase molecular toughening strategy is developed for pilot‐scale roll‐to‐roll (R2R) ‐compatible fabrication of flexible perovskite solar modules. Thiol vapor selectively regulates crystallization and anchors at grain boundaries, reducing defects while enhancing mechanical resilience.
Lirong Dong, Viktor Rehm, Shudi Qiu, Zexian Han, Naveen Harindu Hemasiri, Michael Wurmshuber, Michael Wagner, Cindy‐Ly Tavera‐Méndez, Dorothea Wisser, Chaohui Li, Robin Basu, Leopold Lahn, Olga Kasian, Sarmad Feroze, Wolfgang Heiss, Andreas Distler, Hans‐Joachim Egelhaaf, Fu Yang, Christoph J. Brabec   +18 more
wiley   +2 more sources

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Advances in BODIPY Derivatives for Antibacterial Phototherapy

Angewandte Chemie, EarlyView.
This review systematically summarizes the design strategies and structure‐activity relationships of BODIPY‐based antibacterial phototherapy, covering molecular engineering of small‐molecule photosensitizers and nanoplatforms, bacterial targeting and carrier design, and discussing the challenges and future perspectives associated with clinical ...
Li Lv, Heejeong Kim, Hongchen Zhai, Hanqi Ren, Silu Wang, Cong Sun, Yafu Wang, Hosoowi Lee, Juyoung Yoon, Hua Zhang   +9 more
wiley   +2 more sources

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +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, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Plant‐Derived Silver Nanoparticles From Senegalia catechu: Antimicrobial Activity and Sunlight‐Driven Photocatalysis

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Silver nanoparticles (Ag NPs) have garnered attention for their environmental and medicinal potential, emphasizing the need for eco‐friendly synthesis. This study produces Ag NPs by reacting silver nitrate with aqueous Senegalia catechu leaf extract, a reductant and stabilizer.
Devendra Khadka, Suraksha Sharma, Janaki Baral, Milan Babu Poudel, Bhoj Raj Poudel, Bishnu Prasad Bastakoti, Megh Raj Pokhrel   +6 more
wiley   +1 more source