Results 141 to 150 of about 10,370 (207)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
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
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 +7 more
wiley +1 more source
Angewandte Chemie, EarlyView.An optimized strategy for the ribosomal synthesis of thioisoindole‐bridged bicyclic (TiB) peptides is incorporated into the RaPID platform, enabling high‐throughput discovery from topologically defined TiB libraries. Proof‐of‐concept selection against TNIK identifies nanomolar‐affinity ligands with inhibitory activity, while x‐ray crystallography ...
Yue Zhang +5 more
wiley +2 more sources
Animal Models and Experimental Medicine, EarlyView.This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao +4 more
wiley +1 more source
Environmental Identification of Novel Enzymes for Polyurethane and Polyamide Degradation
Angewandte Chemie, EarlyView.Heteroatom‐containing plastics such as polyurethanes and nylons are produced at scale yet remain largely unrecycled. Biocatalysts offer a promising route to depolymerization under mild conditions. Here, we present a screening platform for the discovery of novel polyurethane‐ and nylon‐degrading enzymes from environmental samples and demonstrate ...
Malthe Kjær Bendtsen +17 more
wiley +2 more sources
Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System
Annals of Neurology, EarlyView.Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti +17 more
wiley +1 more source
Glutathione‐Responsive Acyl‐Modifications for Targeted RNA Decaging and Prolonged Protein Synthesis
Angewandte Chemie, EarlyView.The self‐immolation of disulfide‐based mRNA modifications in response to endogenous glutathione (GSH) promotes a gradual release of translatable mRNA within the cell, leading to improved nuclease resistance, tunable release properties, and a significant increase (up to 600%) of target protein production over time. This strategy offers an exciting proof
Mary E. Flood +6 more
wiley +2 more sources