Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model
Sign Up to like & getrecommendations! Published in 2018 at "Cell"
DOI: 10.1016/j.cell.2018.05.051
Abstract: The evidence that most adult-onset common diseases have a polygenic genetic architecture fully consistent with robust biological systems supported by multiple back-up mechanisms is now overwhelming. In this context, we consider the recent "omnigenic" or… read more here.
Keywords: common disease; model; disease complex; core genes ... See more keywords
Gastrocolic Fistula: A Rare Presentation of a Common Disease.
Sign Up to like & getrecommendations! Published in 2018 at "Gastroenterology"
DOI: 10.1053/j.gastro.2017.05.033
Abstract: DIS 5.5.0 DTD YGAST61209 proof 23 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 Question: A 65-year-old woman presented to emergency department with progressively worsening abdominal pain… read more here.
Keywords: gastrocolic fistula; gastroenterology; common disease; presentation common ... See more keywords
Leveraging mouse chromatin data for heritability enrichment informs common disease architecture and reveals cortical layer contributions to schizophrenia.
Sign Up to like & getrecommendations! Published in 2020 at "Genome research"
DOI: 10.1101/gr.256578.119
Abstract: Genome-wide association studies have implicated thousands of noncoding variants across common human phenotypes. However, they cannot directly inform the cellular context in which disease-associated variants act. Here, we use open chromatin profiles from discrete mouse… read more here.
Keywords: heritability; chromatin; common disease; heritability enrichment ... See more keywords
Solitary ostraceous psoriasis treatment: A rare presentation of a common disease
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Therapy"
DOI: 10.1111/dth.14567
Abstract: Dear Editor, A 34-year-old woman complaining of a solitary pruritic lesion on her shin since 7 months was presented. She had no medical or drug history, with no other skin disease. On physical examination, a… read more here.
Keywords: common disease; case; ostraceous psoriasis; psoriasis ... See more keywords
A Rare Complication of a Common Disease in a 6-Month-Old Infant
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Pediatrics"
DOI: 10.1177/00099228221127731
Abstract: A chest drain was inserted, but as there was no clinical improvement, orotracheal intubation was required and she was transferred to a pediatric intensive care unit (PICU). At the fourth day of admission at the… read more here.
Keywords: month old; old infant; disease month; common disease ... See more keywords
In vitro assessment of triple combination therapy for the most common disease-associated mutation in cystic fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "European Respiratory Journal"
DOI: 10.1183/13993003.02380-2021
Abstract: Cystic fibrosis (CF), one of the most common lethal genetic diseases in those of European descent, is caused by loss-of-function mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which encodes an epithelial ion… read more here.
Keywords: cystic fibrosis; cftr; common disease; associated mutation ... See more keywords
Lichen scrofulosorum: An uncommon manifestation of a common disease
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Mycobacteriology"
DOI: 10.4103/ijmy.ijmy_41_20
Abstract: Tuberculid is a cutaneous immunologic reaction to the presence of tuberculosis (TB), which is often occult, elsewhere in the body or their fragments released from a different site of manifest or past tuberculous infection. These… read more here.
Keywords: manifestation common; uncommon manifestation; scrofulosorum uncommon; common disease ... See more keywords
Common disease-associated gene variants in a Saudi Arabian population
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Saudi Medicine"
DOI: 10.5144/0256-4947.2022.29
Abstract: BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous population.… read more here.
Keywords: disease saudi; saudi population; common disease; associated disease ... See more keywords