Results 81 to 90 of about 2,525,884 (192)

Loss-of-function mutation in the canine ABCA4 gene.

, 2019
(A) Sanger sequencing traces spanning positions Chr6:55,146,545–55,146,564 (CanFam3.1) in exon 28 of the ABCA4 gene of a wild-type, unaffected (ABCA4+/+) dog, a heterozygous (ABCA4+/-) dog, and a homozygous (ABCA4-/-) affected dog.
Agnese Viluma (462030), Daniela Hahn (6482468), Caroline J. Zeiss (441742), Suvi Mäkeläinen (6482462), Göran Andersson (87442), Marta Gòdia (5144840), Finn Hallböök (93131), Minas Hellsand (6482465), Cathryn Mellersh (838866), Kristina Narfström (205129), Sally L. Ricketts (188424), Björn Ekesten (205132), Tomas F. Bergström (6482474), Karim Makdoumi (6482471)   +13 more
core   +1 more source

SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE

Сибирский научный медицинский журнал, 2019
Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods.
N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov   +8 more
doaj   +1 more source

The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts

Genetics Research , Volume 2026, Issue 1, 2026.
Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao, Sidi Zhang, Haoyun Zhu, Zhonglin Jia, Irfan Ahmad   +4 more
wiley   +1 more source

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 [PDF]

, 2019
Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease.
Cremers, Frans PM, Roosing, Susanne, Ayuso, Carmen, group, The ABCA4 study, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S, Fadaie, Zeinab   +7 more
core   +1 more source

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease

Scientific Reports
Stargardt disease type 1 (STGD1), the most common form of hereditary macular dystrophy, can be caused by biallelic combinations of over 2200 variants in the ABCA4 gene. This leads to reduced or absent ABCA4 protein activity, resulting in toxic metabolite
Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens   +6 more
doaj   +1 more source

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation

Human Mutation, Volume 2026, Issue 1, 2026.
Background Accurate clinical variant interpretation depends on the transcript used for annotation and consequence assessment. Transcript‐aware reasoning is also incorporated into existing ClinGen guidance for loss‐of‐function, splicing, functional and computational evidence and into gene‐ and disease‐specific specification.
Himanshu Goel, Miklos Sahin -Toth
wiley   +1 more source

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines

Human Mutation, Volume 2026, Issue 1, 2026.
Purpose The 2015 guidelines recommend using a large, diverse, and race‐matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene‐specific interpretations of ACMG/AMP guidelines, including population information.
Xiaoyan Wang, Tongmei Zhang, Yayun Qin, Yongyi Zou, Haiyan Luo, Haibo Li, Jieping Song, Priya Gusain   +7 more
wiley   +1 more source

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations [PDF]

, 2015
Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V ...
Kolesnikov, Alexander V., Rozanowska, Malgorzata, Jacobson, Samuel, Cideciyan, Artur V., Palczewski, Krzysztof, Stone, Edwin M., Tsybovsky, Yaroslav, Jacobson, Samuel G., Kefalov, Vladimar J., Palczewska, Grazyna, Cideciyan, Artur, Maeda, Akiko, Kefalov, Vladimir, Swider, Malgorzata, Schwartz, Sharon, Schwartz, Sharon B., Stone, Edwin, Kolesnikov, Alexander, Zhang, Ning   +18 more
core   +1 more source

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population

Human Mutation, Volume 2026, Issue 1, 2026.
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Jennifer Ling, Mustansir Pindwarawala, Cheryl Y. Gregory-Evans, Mathew Kirby, Kevin Gregory-Evans, Meng-Che Tsai   +5 more
wiley   +1 more source

The Natural History of Stargardt Disease with Specific Sequence Mutation in theABCA4Gene

Investigative Opthalmology & Visual Science, 2009
To determine longitudinal changes in fundus appearance and visual function in patients with Stargardt with at least one allelic mutation (Gly1961Glu) in the ABCA4 gene.Sixteen patients with a diagnosis of Stargardt disease and a Gly1961Glu mutation were enrolled.
Mohamed A, Genead, Gerald A, Fishman, Edwin M, Stone, Rando, Allikmets   +3 more
openaire   +2 more sources