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Select item 99565791.

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns

Genes (Basel) 2023 Feb; 14(2): 322. Published online 2023 Jan 26. doi: 10.3390/genes14020322

PMCID:: PMC9956579

Abstract Article PDF–21M

Select item 89501752.

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant

Lidiia Zhytnik, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks, Aare Märtson, Alessandra Maugeri, Katre Maasalu, Dimitra Micha

Genes (Basel) 2022 Mar; 13(3): 407. Published online 2022 Feb 24. doi: 10.3390/genes13030407

PMCID:: PMC8950175

Abstract Article PDF–1.9M

Select item 50105703.

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

Nadja Fratzl-Zelman, Aileen M. Barnes, MaryAnn Weis, Erin Carter, Theresa E. Hefferan, Giorgio Perino, Weizhong Chang, Peter A. Smith, Paul Roschger, Klaus Klaushofer, Francis H. Glorieux, David R. Eyre, Cathleen Raggio, Frank Rauch, Joan C. Marini

J Clin Endocrinol Metab. 2016 Sep; 101(9): 3516–3525. Published online 2016 Jul 6. doi: 10.1210/jc.2016-1334

PMCID:: PMC5010570

Abstract Article

Select item 33937684.

A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta

Wayne A. Cabral, Aileen M. Barnes, Adebowale Adeyemo, Kelly Cushing, David Chitayat, Forbes D. Porter, Susan R. Panny, Fizza Gulamali-Majid, Sarah A. Tishkoff, Timothy R. Rebbeck, Serigne M. Gueye, Joan E. Bailey-Wilson, Lawrence C. Brody, Charles N. Rotimi, Joan C. Marini

Genet Med. Author manuscript; available in PMC 2012 Jul 10.

Published in final edited form as: Genet Med. 2012 May; 14(5): 543–551. Published online 2012 Jan 26. doi: 10.1038/gim.2011.44

PMCID:: PMC3393768

Abstract Article PDF–448K

Select item 88611005.

Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer

A-Ram Lee, Sunho Lee, Jee Yoon Shin, Ji-Young Kim, Kyoung-Sik Moon, Joungsun Jung

Sci Rep. 2022; 12: 2928. Published online 2022 Feb 21. doi: 10.1038/s41598-022-06621-w

PMCID:: PMC8861100

Abstract Article PDF–11M

Select item 87744386.

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Dina Nadyrshina, Aliya Zaripova, Anton Tyurin, Ildar Minniakhmetov, Ekaterina Zakharova, Rita Khusainova

Genes (Basel) 2022 Jan; 13(1): 124. Published online 2022 Jan 10. doi: 10.3390/genes13010124

PMCID:: PMC8774438

Abstract Article PDF–632K

Select item 75101757.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis, Melissa A Scott, Sergey Leikin, Elena Makareeva, Natalia V Kuznetsova, Kenneth N Rosenbaum, Cynthia J Tifft, Dorothy I Bulas, Chahira Kozma, Peter A Smith, David R Eyre, Joan C Marini

Nat Genet. Author manuscript; available in PMC 2020 Sep 23.

Published in final edited form as: Nat Genet. 2007 Mar; 39(3): 359–365. Published online 2007 Feb 4. doi: 10.1038/ng1968

PMCID:: PMC7510175

Abstract Article PDF–1.0M

Select item 33529238.

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, MaryAnn Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa

PLoS One. 2012; 7(5): e36809. Published online 2012 May 15. doi: 10.1371/journal.pone.0036809

PMCID:: PMC3352923

Abstract Article PDF–1.8M

Select item 31565559.

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

Joan C. Marini, Wayne A. Cabral, Aileen M. Barnes

Cell Tissue Res. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: Cell Tissue Res. 2010 Jan; 339(1): 59–70. Published online 2009 Oct 28. doi: 10.1007/s00441-009-0872-0

PMCID:: PMC3156555

Abstract Article PDF–332K

Select item 267157510.

CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

Dustin Baldridge, Ulrike Schwarze, Roy Morello, Jennifer Lennington, Terry K. Bertin, James M. Pace, Melanie G. Pepin, MaryAnn Weis, David R. Eyre, Jennifer Walsh, Deborah Lambert, Andrew Green, Haynes Robinson, Melonie Michelson, Gunnar Houge, Carl Lindman, Judith Martin, Jewell Ward, Emmanuelle Lemyre, John J. Mitchell, Deborah Krakow, David L. Rimoin, Daniel H. Cohn, Peter H. Byers, Brendan Lee

Hum Mutat. Author manuscript; available in PMC 2009 Apr 21.

Published in final edited form as: Hum Mutat. 2008 Dec; 29(12): 1435–1442. doi: 10.1002/humu.20799

PMCID:: PMC2671575

Abstract Article PDF–2.5M

Select item 279688811.

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Weizhong Chang, Aileen M. Barnes, Wayne A. Cabral, Joann N. Bodurtha, Joan C. Marini

Hum Mol Genet. 2010 Jan 15; 19(2): 223–234. Published online 2009 Oct 21. doi: 10.1093/hmg/ddp481

PMCID:: PMC2796888

Abstract Article PDF–451K

Select item 263880112.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Dale L. Bodian, Ting-Fung Chan, Annie Poon, Ulrike Schwarze, Kathleen Yang, Peter H. Byers, Pui-Yan Kwok, Teri E. Klein

Hum Mol Genet. 2009 Feb 1; 18(3): 463–471. Published online 2008 Nov 7. doi: 10.1093/hmg/ddn374

Correction in:: Hum Mol Genet. 2009 May 15; 18(10): 1893–1895.

PMCID:: PMC2638801

Abstract Article PDF–106K

Select item 315656013.

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

Aileen M. Barnes, Erin M. Carter, Wayne A. Cabral, MaryAnn Weis, Weizhong Chang, Elena Makareeva, Sergey Leikin, Charles N. Rotimi, David R. Eyre, Cathleen L. Raggio, Joan C. Marini

N Engl J Med. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: N Engl J Med. 2010 Feb 11; 362(6): 521–528. Published online 2010 Jan 20. doi: 10.1056/NEJMoa0907705

PMCID:: PMC3156560

Abstract Article PDF–1.8M

Select item 381474014.

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

Yoshihiro Ishikawa, Hans Peter Bächinger

J Biol Chem. 2013 Nov 1; 288(44): 31437–31446. Published online 2013 Sep 16. doi: 10.1074/jbc.M113.498063

PMCID:: PMC3814740

Abstract Article PDF–1.2M

Select item 792630715.

EDEM3 Domains Cooperate to Perform Its Overall Cell Functioning

Georgiana Manica, Simona Ghenea, Cristian V. A. Munteanu, Eliza C. Martin, Cristian Butnaru, Marius Surleac, Gabriela N. Chiritoiu, Petruta R. Alexandru, Andrei-Jose Petrescu, Stefana M. Petrescu

Int J Mol Sci. 2021 Feb; 22(4): 2172. Published online 2021 Feb 22. doi: 10.3390/ijms22042172

PMCID:: PMC7926307

Abstract Article PDF–4.2M

Select item 819174216.

Comprehensive proteomic characterization of stem cell-derived extracellular matrices

Héloïse Ragelle, Alexandra Naba, Benjamin L. Larson, Fangheng Zhou, Miralem Prijic, Charles A. Whittaker, Amanda Del Rosario, Robert Langer, Richard O. Hynes, Daniel G. Anderson

Biomaterials. Author manuscript; available in PMC 2021 Jun 10.

Published in final edited form as: Biomaterials. 2017 Jun; 128: 147–159. Published online 2017 Mar 7. doi: 10.1016/j.biomaterials.2017.03.008