Results 131 to 140 of about 29,255 (302)

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Age-related loss of skeletal muscle function; impairment of gene expression. [PDF]

, 2004
Mechano Growth Factor (MGF) is derived from the insulin-like growth factor (IGF-I) but its sequence differs from the systemic IGF-I produced by the liver. MGF is expressed by mechanically overloaded muscle and is involved in tissue repair and adaptation.
Goldspink, G
core  

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Pregnancy Decision‐Making Among Women With Physical Disabilities: Cross‐Sectional Survey Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Understand the pregnancy informational needs and decision‐making of women with physical disabilities. Design Cross‐sectional. Setting Community. Sample 114 adult American women with physical disabilities who had experience making a decision about pregnancy while disabled. Methods Online survey.
Claire Z. Kalpakjian, Susan D. Ernst, Heidi J. Haapala, Melissa L. Barber, Brittany R. Orians, Lukonde Mulenga, Shannen M. McIntosh, Julia Shah, Jodi M. Kreschmer, Rebecca Parten, Sara Rosenblum, Gina M. Jay   +11 more
wiley   +1 more source

The scent of death: A case study for volatile markers of decomposition on a concrete floor

Journal of Forensic Sciences, EarlyView.
Abstract Volatile organic compounds (VOCs) released during human decomposition are chemically diverse and can provide forensic evidence indicating the prior presence of a corpse. In July 2023, the Michigan City Police Department received a report from an individual claiming to have murdered his roommate and stored the body in a basement cellar for 57 ...
Alexis Hecker, Anna Painter, John Goodpaster   +2 more
wiley   +1 more source

DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis

The Turkish Journal of Pediatrics, 1998
Duchenne and Becker muscular dystrophies are X-linked genetic disorders characterized by dystrophin gene defects. We have studied 250 families with Duchenne and Becker muscular dystrophies (D/BMD) by molecular genetic methods since 1992.
P Dinçer, H Topaloğlu, S Ayter
doaj  

Update on Non‐Biological and RNA‐Based Therapeutics in Chronic Inflammatory Diseases: Precision Medicine Through Small Molecules: An EAACI Position Paper

Allergy, EarlyView.
ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter, I. M. Adcock, C. Benito‐Villalvilla, R. Bianchini, L. Bjermer, G. Caramori, L. Cari, K. F. Chung, Z. Diamant, I. Eguiluz‐Gracia, E. F. Knol, M. Jesenak, F. Levi‐Schaffer, G. Nocentini, L. O'Mahony, O. Palomares, F. Redegeld, M. Sokolowska, B. Van Esch, M. Zurlo, C. Stellato   +20 more
wiley   +1 more source