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
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
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. [PDF]
, 1985 Michael Dush +4 more
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Intron length polymorphism of actin genes in different varieties of ukrainian selection flax
, 1970 A. С. Postovoitova +3 more
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The wheat cytochrome oxidase subunit II gene has an intron insert and three radical amino acid changes relative to maize [PDF]
, 1984 Linda Bonen +2 more
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Excised linear introns regulate growth in yeast
Nature, 2018 J. Morgan, G. Fink, D. Bartel
semanticscholar +1 more source
Sequence comparison of the rDNA introns from six different species ofTetrahymena
, 1985 Henrik Nielsen, Jan Engberg
openalex +2 more sources
Construction of a yeast strain devoid of mitochondrial introns and its use to screen nuclear genes involved in mitochondrial splicing. [PDF]
, 1987 Bertrand Séraphin +3 more
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Gene discovery and transcript analyses in the corn smut pathogen Ustilago maydis: expressed sequence tag and genome sequence comparison. [PDF]
, 2007 BACKGROUND: Ustilago maydis is the basidiomycete fungus responsible for common smut of corn and is a model organism for the study of fungal phytopathogenesis.
core +1 more source