Associated Papers
A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.
Doğan Arı AB et al.
Molecular Syndromology, 2025
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
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
Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.
Simsek E et al.
Molecular Syndromology, 2025
Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
Hatziagapiou K et al.
Journal of Clinical Medicine, 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
Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes.
Palani S et al.
Nature Communications, 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
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.
Yuan N et al.
World Journal of Clinical Cases, 2023
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
Eren E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.
Gelineau-van Waes J et al.
Frontiers in Cell and Developmental Biology, 2023
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S et al.
Genes, 2022
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y et al.
Frontiers in Endocrinology, 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
Genetic and drug-induced hypomagnesemia: different cause, same mechanism.
Bosman W et al.
The Proceedings of the Nutrition Society, 2021
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
Müller R et al.
American Journal of Medical Genetics. Part A, 2021
FAM111A induces nuclear dysfunction in disease and viral restriction.
Nie M et al.
Embo Reports, 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
Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
Deconte D et al.
Journal of Pediatric Genetics, 2020
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
Cavole TR et al.
American Journal of Medical Genetics. Part A, 2020
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
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
Abraham MB et al.
International Journal of Pediatric Endocrinology, 2017
Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
Grosse G et al.
Hormone Research in Paediatrics, 2017
[Kenny-Caffey syndrome and its related syndromes].
Isojima T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2015
Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
Nikkel SM et al.
Clinical Genetics, 2014
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Isojima T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Whole exome sequencing to identify genetic causes of short stature.
Guo MH et al.
Hormone Research in Paediatrics, 2014
Dwarfism and congenital medullary stenosis (Kenny syndrome).
Wilson MG et al.
Birth Defects Original Article Series, 1974
Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.
Turner AE et al.
The Journal of Craniofacial Surgery, 0