Results 91 to 100 of about 4,772 (187)
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
core +2 more sources
Advanced Science, Volume 12, Issue 10, March 13, 2025.Patellar dysplasia may cause patellar dislocation and osteoarthritis (OA). A novel ABCA6 mutation in a four ‐ generation family is identified. ABCA6 is related to patellar dysplasia and OA progression. Its downregulation correlates with OA onset. ABCA6 regulates chondrogenesis and inhibits joint degeneration via orchestrated cholesterol efflux and ...
Yi Wang +6 more
wiley +1 more source
LMX1B‐Regulated Nephrogenesis: A Role for Proteoglycans
The FASEB Journal, 2013 Lmx1b is a transcription factor necessary for kidney development. In humans, haploinsufficiency causes Nail Patella Syndrome frequently with chronic renal failure. In Lmx1b knockout mice, glomerular basement membrane formation is impaired, blocking filtration, urine production and long term survival.
Aldo Jhonathan Espinoza +3 more
openaire +1 more source
Generation and characterization of a mouse line for monitoring translation in dopaminergic neurons [PDF]
, 2017 We developed a mouse line targeting midbrain dopamine neurons for Translating Ribosome Affinity Purification(TRAP). Here, we briefly report on the basic characterization of this mouse line including confirmation of expression of the transgene in midbrain
Dougherty, Joseph D
core +2 more sources
Veterinary Medicine and Science, Volume 11, Issue 1, January 2025.There are distinct genetic backgrounds among different chicken populations, with commercial breeds showing a higher number of runs of homozygosity compared to indigenous chickens and their wild ancestors. Indigenous chicken ecotypes have runs of homozygosity islands associated with genetic adaptations, including genes related to disease resistance ...
Elaheh Rostamzadeh Mahdabi +3 more
wiley +1 more source
Early dorsomedial tissue interactions regulate gyrification of distal neocortex
Nature Communications, 2019 The contribution of long-range signaling to cortical gyrification remains poorly understood. In this study, authors demonstrate that the combined genetic loss of transcription factors Lmx1a and Lmx1b, expressed in the telencephalic dorsal midline ...
Victor V. Chizhikov +8 more
doaj +1 more source
Scientific Reports, 2023 Neoadjuvant treatment of breast cancer is applied to an increasing extent, but treatment response varies and side effects pose a challenge. The vitamin E isoform delta-tocotrienol might enhance the efficacy of chemotherapy and reduce the risk of side ...
Ina Mathilde Kjær +8 more
doaj +1 more source
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. [PDF]
, 2017 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability.
Banda, Yambazi +10 more
core +3 more sources
Clinical Genetics, Volume 107, Issue 1, Page 78-82, January 2025.We report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including ischio‐pubic‐patellar dysostosis, dysmorphism, hypermobility, laryngo‐tracheo‐bronchomalacia, and atrioventricular septal defect. Our findings suggest a new association between BMP5 variants and a range of developmental anomalies, thereby increasing
Pernille Axél Gregersen +13 more
wiley +1 more source
Nature Communications, 2018 Primary open-angle glaucoma (POAG) leads to progressive vision loss. Here, Choquet et al. perform genome-wide association analysis for POAG in a multi-ethnic cohort, identify a total of nine novel genetic loci and show relevant function of FMNL2 and ...
Hélène Choquet +15 more
doaj +1 more source