ArticleHuman molecular genetics2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 55 citations in OpenAlex.
- P4HA3 is dispensable for prolyl 4-hydroxylation of type I collagen during mouse development.The Journal of biological chemistry · 2026Article
- Impaired P4HA1-Driven Hydroxyproline Formation Mediates Scleral Collagen Disruption in Form-Deprivation Myopia.Investigative ophthalmology & visual science · 2026Article
- Collagen IV biosynthesis: Intracellular choreography of post-translational modifications.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- The life cycle of type IV collagen.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- Hypoxia-induced ATF3 escalates breast cancer invasion by increasing collagen deposition via P4HA1.Cell death & disease · 2025Article
- ER-resident proteins are key players in cartilage and bone homeostasis.Frontiers in cell and developmental biology · 2025Review
- A Comprehensive Review of Protein Biomarkers for Invasive Lung Cancer.Current oncology (Toronto, Ont.) · 2024Review
- Scans for Signatures of Selection in Genomes of Wagyu and Buryat Cattle Breeds Reveal Candidate Genes and Genetic Variants for Adaptive Phenotypes and Production Traits.Animals : an open access journal from MDPI · 2024Article
- P4HA1: an important target for treating fibrosis related diseases and cancer.Frontiers in pharmacology · 2024Review
- Developmental growth plate cartilage formation suppressed by artificial light at night via inhibiting BMAL1-driven collagen hydroxylation.Cell death and differentiation · 2023Article
- Reduced Bone Mass in Collagen Prolyl 4-HydroxylaseJBMR plus · 2022Article
- The Role of P4HA1 in Multiple Cancer Types and its Potential as a Target in Renal Cell Carcinoma.Frontiers in genetics · 2022Article
- Analysis of Multifactor-Driven Myopia Disease Modules to Guide Personalized Treatment and Drug Development.Computational and mathematical methods in medicine · 2022Article
- Myoblast differentiation of C2C12 cell may related with oxidative stress.Intractable & rare diseases research · 2021Article
- Article
- Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.American journal of human genetics · 2021Article
- P4HA1 regulates human colorectal cancer cells through HIF1α-mediated Wnt signaling.Oncology letters · 2021Article
- Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.Cancers · 2021Review
- Identifying Candidate Genes Involved in the Regulation of Early Growth Using Full-Length Transcriptome and RNA-Seq Analyses of Frontal and Parietal Bones and Vertebral Bones in Bighead Carp (Frontiers in genetics · 2020Article
- Role of prolyl hydroxylation in the molecular interactions of collagens.Essays in biochemistry · 2019Review
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 3 countries.
Funding
Abstract
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness and bone dysplasia as well as high myopia, with evidence of clinical improvement of motor function over time in the surviving patient. Similar to P4ha1 null mice, which die prenatally, the muscle tissue from P1 and P2 was found to have reduced collagen IV immunoreactivity at the muscle basement membrane. Patients were compound heterozygous for frameshift and splice site mutations leading to reduced, but not absent, P4HA1 protein level and C-P4H activity in dermal fibroblasts compared to age-matched control samples. Differential scanning calorimetry revealed reduced thermal stability of collagen in patient-derived dermal fibroblasts versus age-matched control samples. Mutations affecting the family of C-P4Hs, and in particular C-P4H-I, should be considered in patients presenting with congenital connective tissue/myopathy overlap disorders with joint hypermobility, contractures, mild skeletal dysplasia and high myopia.
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