Associated Papers
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
39519200 (PubMed )
Supplement: ijms-25-11649-s001.zip › ijms-3279427-supplementary.pdf
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3
New macular findings in individuals with biallelic KLHL7 gene mutation.
Heng LZ et al.
Bmj Open Ophthalmology, 2019
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
Kim J et al.
Biochemical and Biophysical Research Communications, 2017
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A et al.
American Journal of Human Genetics, 2016
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Wen Y et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
Kigoshi Y et al.
The Journal of Biological Chemistry, 2011
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS et al.
American Journal of Human Genetics, 2009
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