Results 111 to 120 of about 1,702,970 (343)
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC +8 more
core
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
PLoS ONE, 2013 Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Ying Hu +7 more
semanticscholar +1 more source
Advanced Science, EarlyView.A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim +12 more
wiley +1 more source
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source
Intellectual disability associated with a homozygous missense mutation in THOC6
Orphanet Journal of Rare Diseases, 2013 BackgroundWe recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families.
C. Beaulieu +17 more
semanticscholar +1 more source
Advanced Science, EarlyView.Antibody–drug conjugates (ADCs) transform breast cancer therapy, yet resistance limits their durability. Emerging evidence reveals that ADC failure is not solely tumor‐intrinsic but shaped by dynamic tumor–microenvironment interactions that alter drug delivery, processing, and response.
Minji Seo, Jangsoon Lee, Naoto T. Ueno
wiley +1 more source
HereditasBackground Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu +6 more
doaj +1 more source
Genome-wide association study for calving performance using high-density genotypes in dairy and beef cattle [PDF]
, 2015 peer-reviewedBackground Calving difficulty and perinatal mortality are prevalent in modern-day cattle production systems. It is well-established that there is a genetic component to both traits, yet little is known about their underlying genomic ...
Berry, Donagh +4 more
core +3 more sources
Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model
Advanced Science, EarlyView.A TP53‐specific predictor, CaVepP53, is developed by fine‐tuning ESMC on experimentally validated variants, quantifying pathogenicity via Euclidean distances. It outperforms general‐purpose models and extends to five cancer genes, enabling interpretable variant classification for precision medicine.
Huiying Chen +15 more
wiley +1 more source