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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.
Eur J Hum Genet
March 2023
Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.
Article Synopsis
- - ARHGAP35 is important for various cellular processes and has been linked to cancer and developmental issues in both humans and mice, particularly in eye and neural structures.
- - Researchers found harmful genetic variants of ARHGAP35 in five people from four families with eye disorders such as anophthalmia and microphthalmia, along with other health problems.
- - The identified genetic variants mainly affected the protein's C-terminus and suggest that ARHGAP35 may play a significant role in eye development, hinting at a shared mechanism for related ocular diseases, but more research is needed.
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
Hum Genet
November 2021
Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.
One of the most unique coat color patterns in the domestic dog is merle (also known as dapple in the dachshund breed), characterized by patches of normal pigmentation surrounded by diluted eumelanin pigment. In dogs, this striking variegated pattern is caused by an insertion of a SINE element into the PMEL gene. Differences in the length of the SINE insertion [due to a variable-length poly(A)-tail] has been associated with variation in the merle coat color and patterning.
View Article and Find Full Text PDFBirth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Cleft Palate Craniofac J
April 2022
Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry.
Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently.
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
BMC Med Genomics
November 2020
Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Background: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.
View Article and Find Full Text PDFAnxiety and depression in patients wearing prosthetic eyes.
Graefes Arch Clin Exp Ophthalmol
February 2021
Department of Ophthalmology, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Kerpener Strasse 62, 50924, Cologne, Germany.
Purpose: To investigate anxiety and depression levels in prosthetic eye-wearing patients using standardized psychometric instruments, to define factors associated with these psychological diseases, and to identify a potential healthcare gap.
Methods: A total of 295 prosthetic eye wearers were screened using the 7-item generalized anxiety disorder scale (GAD-7) and the 9-item patient health questionnaire (PHQ-9). Scores of GAD-7 and PHQ-9 were correlated with scores of general physical and mental health functioning, vision-related quality of life, appearance-related distress, appearance-related social function, and further biosocial factors.
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