Associated Papers
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.
Li D et al.
Jci Insight, 2025
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
Bonde LD et al.
Journal of Human Genetics, 2025
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Tonelli L et al.
European Journal of Medical Genetics, 2024
Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
Chen X et al.
Molecular Genetics & Genomic Medicine, 2024
Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
Naicker D et al.
International Journal of Molecular Sciences, 2024
FAM111A regulates replication origin activation and cell fitness.
Rios-Szwed DO et al.
Life Science Alliance, 2023
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S et al.
Genes, 2022
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2021
FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.
Hoffmann S et al.
Embo Reports, 2020
FAM111A protects replication forks from protein obstacles via its trypsin-like domain.
Kojima Y et al.
Nature Communications, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
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