Results 81 to 90 of about 143,897 (248)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
The Relation Between Scale and the Completeness of Pattern in Vertebrate Embryogenesis: Models and Experiments [PDF]
, 1982 Jonathan Cooke
openalex +1 more source
Insights into organelle forming RNAs: Diversity, functions and future perspectives
Animal Models and Experimental Medicine, EarlyView.RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley +1 more source
Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation
Advanced NanoBiomed Research, EarlyView.This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley +1 more source
Age and Hormonal Dependence of Acquisition of Oocyte Competence for Embryogenesis in Prepubertal Calves1 [PDF]
, 1997 Giorgio Antonio Presicce +6 more
openalex +1 more source
Applications in Plant Sciences, EarlyView.Abstract Premise Salt marshes in the North Atlantic United States are dominated by grasses from the genus Sporobolus, which are perennial C4 plants known for tolerating saline, anoxic, and flooded coastal sediments. Establishing in vitro cultures of Sporobolus species remains a major challenge due to frequent seed contamination from ergot and ...
Elena L. Peredo +2 more
wiley +1 more source