Results 161 to 170 of about 397,235 (339)
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
Messenger RNA targeting to endoplasmic reticulum stress signalling sites. [PDF]
, 2009 Deficiencies in the protein-folding capacity of the endoplasmic reticulum (ER) in all eukaryotic cells lead to ER stress and trigger the unfolded protein response (UPR).
Aragón, Tomás +6 more
core
Evidence that introns arose at proto-splice sites. [PDF]
, 1989 N. J. Dibb, Andrew J. Newman
openalex +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source
The role of introns in evolution
FEBS Letters, 1990 What are the roles of ‘classical’ introns in the evolution of nuclear genes, and what was the origin of these introns? Exon shuffling has been important in the evolution of cell surface and extracellular proteins, but the evidence for it in respect of intracellular proteins is weak.
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Frontiers in ImmunologyBackgroundMutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio
Lin-Nan Shao +7 more
doaj +1 more source
Identification of a phenotype-specific enhancer in the first intron of the rat collagen II gene. [PDF]
, 1987 Walter E. Horton +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque +7 more
wiley +1 more source
PhytoFrontiersA pathogen causing disease on yellow nutsedge (Cyperus esculentus) growing in and near irrigated areas of onion seed and bulb fields in Idaho and Oregon during July and August 1996 was morphologically and molecularly characterized.
Tyler B. Bourret +5 more
doaj +1 more source