Results 201 to 210 of about 8,223 (270)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Definition of critical skin defect and concepts of structural and functional repairs: Proposal and verification in a rat model

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the research process regarding skin defect repair using a rat model of skin defect. First, it assesses whether the barrier function of the skin is repaired. If the answer is “YES”, the study proceeds to focus on structural repair.
Cong Sun, Weihong Guo, Fang Liang, Rabia Javed, Weijian Hou, Xingdong Zhang, Qiang Ao   +6 more
wiley   +1 more source

Overexpression of mitofusin 2 ameliorates inflammation and oxidative stress in lipopolysaccharide‐induced mastitis model by regulating phosphofurin acidic cluster sorting protein 2

Animal Models and Experimental Medicine, EarlyView.
The interaction between mitofusin 2 (MFN2) and phosphofurin acidic cluster sorting protein 2 regulates the formation of mitochondria‐associated endoplasmic reticulum membranes (MAM). Overexpression of MFN2 can promote the formation of MAMs and inhibit inflammation and oxidative stress response in mammary epithelial cells.
Xiechen Zhou, Yufei Zhang, He Ma, Shoupeng Fu, Juxiong Liu, Wenjin Guo, Xiaofeng Tian, Bingxu Huang   +7 more
wiley   +1 more source

Recent advances in animal models for pathological scar research: A comprehensive review of experimental approaches and translational relevance

Animal Models and Experimental Medicine, EarlyView.
Animal models remain indispensable in the study of pathological scars, each offering unique advantages and constraints. Their integration with in vitro and ex vivo systems is key to developing personalized, clinically translatable antifibrotic therapies. Abstract Pathological scarring, manifested in the form of hypertrophic scars (HTS) and keloid scars
Diana‐Larisa Ancuța, Mariana Văduva, Cristin Coman, Iuliana Caraș   +3 more
wiley   +1 more source

Development of an in situ small intestinal injection technique for targeted macromolecule delivery and in vivo functional studies in mice

Animal Models and Experimental Medicine, EarlyView.
This study developed a minimally invasive, in situ small intestinal injection technique for mice, enabling targeted delivery of bioactive molecules while bypassing gastric degradation. Validation using functional assays and single‐cell RNA sequencing reveals high‐mobility group box 1–mediated epithelial responses, offering a translational tool for gut ...
Yawen Lai, Xintao Zhang, Tingting Luo, Wenhan Chen, Chenyu Ma, Haihua Luo, Jinghua Liu, Jia Xu   +7 more
wiley   +1 more source

Inactivation of the Burkholderia Toxin Malleicyprol by Enzymatic Cyclopropanol Ring Opening. [PDF]

Angew Chem Int Ed Engl
Fiedler J, Richter I, Dornblut K, Scharf A, Hertweck C.   +4 more
europepmc   +1 more source

Animal models of benign airway stenosis: Advances in construction techniques, evaluation systems, and perspectives

Animal Models and Experimental Medicine, EarlyView.
Currently, the animals commonly used to establish animal models of benign airway stenosis (BAS) include mice, rats, pigs, dogs, rabbits, and ferrets. The establishment methods involve one or a combination of two methods such as mechanical injury, tracheal cautery, cuff overpressure intubation, laser injury, and endoscopic silver nitrate cauterization ...
Wusheng Zhang, Yilin Chen, Chengcheng Yang, Yuchao Dong, Haidong Huang, Hui Shi, Chong Bai   +6 more
wiley   +1 more source

Advances and Challenges in Micro/Nanocarrier‐Based Dermal Drug Delivery Systems for Acne Treatment

Advanced NanoBiomed Research, EarlyView.
Topical acne treatment faces challenges from skin barriers and complex causes. Micro/nanocarriers improve drug delivery by enhancing bioavailability, targeting, and duration. Combining carriers creates synergistic effects for systematic intervention.
Jintao Yang, Jie Chen, Yunmiao Ma, Qingwei Zhou, Yu Kong, Yingxiang Chen, Junjie Chi, Haihua Hu   +7 more
wiley   +1 more source