| A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. | A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.
Kantaputra PN, Angkurawaranon S, Intachai W, Ngamphiw C, Olsen B, Tongsima S, Cox TC, Ketudat Cairns JR., Free PMC Article | 03/2/2023 |
| Cell Surface Accumulation of Intracellular Leucine Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp Stem Cells. | Cell Surface Accumulation of Intracellular Leucine Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp Stem Cells.
Kang KJ, Choi MJ, Min TJ, You TM, Lee G, Ko SY, Jang YJ. | 11/19/2022 |
| Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. | Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L, Duy BH, Eekhoff M, Wisse L, Pals G, Reimann E, Kõks S, Märtson A, Maugeri A, Maasalu K, Micha D., Free PMC Article | 07/30/2022 |
| Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer. | Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer.
Lee AR, Lee S, Shin JY, Kim JY, Moon KS, Jung J., Free PMC Article | 03/19/2022 |
| A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies. | A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Ketudat Cairns JR, Kawasaki K, Ohazama A, Olsen B, Tongsima S, Angkurawaranon S. | 03/5/2022 |
| Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). | Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D, Zaripova A, Tyurin A, Minniakhmetov I, Zakharova E, Khusainova R., Free PMC Article | 02/26/2022 |
| A new case of osteogenesis imperfecta type VIII and retinal detachment. | A new case of osteogenesis imperfecta type VIII and retinal detachment.
de Souza LT, Nunes RR, de Azevedo Magalhães O, Maria Félix T. | 07/3/2021 |
| Upregulated LEPRE1 correlates with poor outcome and its knockdown attenuates cells proliferation, migration and invasion in osteosarcoma. | Upregulated LEPRE1 correlates with poor outcome and its knockdown attenuates cells proliferation, migration and invasion in osteosarcoma.
Huang Z, Wang Q, Wang Y, Zhao L, Cao Z, Cui C, Yu D, Liu B. | 02/6/2021 |
| Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.", trans "Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos. | Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.
Caudevilla Lafuente P, Izquierdo-Álvarez S, Labarta Aizpún JI. | 10/24/2020 |
| P3H1 mutation is associated with Non-Lethal Type VIII Osteogenesis Imperfecta. | Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC., Free PMC Article | 06/24/2017 |
| This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI. | Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C, Trancozo M, Almeida MG, Almeida LS, Santos TO, Duarte JC, Rebouças MR, Sipolatti V, Nunes VR, Paula F. | 09/17/2016 |
| An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. | An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
Ishikawa Y, Bächinger HP., Free PMC Article | 01/4/2014 |
| This is the first report of a mutation in LEPRE1 that eliminates only the KDEL ER-retrieval sequence, whereas other functional domains remain intact | A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T., Free PMC Article | 09/15/2012 |
| 0.4% of Mid-Atlantic African Americans and 1.48% West Africans carry mutation in LEPRE1 which causes lethal recessive osteogenesis imperfecta. | A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC., Free PMC Article | 09/1/2012 |
| Mutation analyses were performed for COL1A1, COL1A2, CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with osteogenesis imperfecta. | The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ. | 05/19/2012 |
| We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation | Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
van Dijk FS, Nikkels PG, den Hollander NS, Nesbitt IM, van Rijn RR, Cobben JM, Pals G. | 10/15/2011 |
| Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. | Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC, Cabral WA, Barnes AM., Free PMC Article | 03/29/2010 |
| CRTAP and P3H1 are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum. | Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC., Free PMC Article | 03/22/2010 |
| Findings suggest that the 3-hydroxylation function of P3H1 is restricted to the 736AA splice form. | Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. | 01/21/2010 |
| Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta. | Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE., Free PMC Article | 01/21/2010 |
| Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1. | CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B., Free PMC Article | 01/21/2010 |