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Select item 105306571.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation

Diederik de Graef, Anna N. Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C Edmondson, Christin Johnsen, Tamas Kozicz, Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Mol Genet Metab. 2023 Jun; 139(2): 107606. Published online 2023 May 9. doi: 10.1016/j.ymgme.2023.107606

PMCID:: PMC10530657

Abstract Article PDF–331K

Select item 2882142.

Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.

M Murata, S R Russell, Z M Ruggeri, J Ware

J Clin Invest. 1993 May; 91(5): 2133–2137. doi: 10.1172/JCI116438

PMCID:: PMC288214

Summary Page Browse PDF–1.1M

Select item 3104703.

Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells.

A van Hoffen, A T Natarajan, L V Mayne, A A van Zeeland, L H Mullenders, J Venema

Nucleic Acids Res. 1993 Dec 25; 21(25): 5890–5895. doi: 10.1093/nar/21.25.5890

PMCID:: PMC310470

Summary Page Browse PDF–1.2M

Select item 3718684.

Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

K S Chung, D A Madar, J C Goldsmith, H S Kingdon, H R Roberts

J Clin Invest. 1978 Nov; 62(5): 1078–1085. doi: 10.1172/JCI109213

PMCID:: PMC371868

Summary Page Browse PDF–1.5M

Select item 4234055.

Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site.

P Usharani, B J Warn-Cramer, C K Kasper, S P Bajaj

J Clin Invest. 1985 Jan; 75(1): 76–83. doi: 10.1172/JCI111700

PMCID:: PMC423405

Summary Page Browse PDF–1.7M

Select item 4423416.

Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

B G Schach, S Yoshitake, E W Davie

J Clin Invest. 1987 Oct; 80(4): 1023–1028. doi: 10.1172/JCI113155

PMCID:: PMC442341

Summary Page Browse PDF–1.1M

Select item 18953397.

The effects of intrinsic pathway protease deficiencies on plasminogen-deficient mice

Qiufang Cheng, Yong Zhao, William E. Lawson, Vasiliy V. Polosukhin, Joyce E. Johnson, Timothy S. Blackwell, David Gailani

Blood. 2005 Nov 1; 106(9): 3055–3057. Prepublished online 2005 Jun 28. doi: 10.1182/blood-2005-02-0577

PMCID:: PMC1895339

Abstract Article

Select item 22897908.

Long-term expression of murine activated factor VII is safe, but elevated levels cause premature mortality

Majed N. Aljamali, Paris Margaritis, Alexander Schlachterman, Shing Jen Tai, Elise Roy, Ralph Bunte, Rodney M. Camire, Katherine A. High

J Clin Invest. 2008 May 1; 118(5): 1825–1834. Published online 2008 Apr 8. doi: 10.1172/JCI32878

PMCID:: PMC2289790

Abstract Article PDF–724K

Select item 28321369.

Hypoxia Inducible-Factor1α Regulates the Metabolic Shift of Pulmonary Hypertensive Endothelial Cells

Iwona Fijalkowska, Weiling Xu, Suzy A.A. Comhair, Allison J. Janocha, Lori A. Mavrakis, Balaji Krishnamachary, Lijie Zhen, Thianzi Mao, Amy Richter, Serpil C. Erzurum, Rubin M. Tuder

Am J Pathol. 2010 Mar; 176(3): 1130–1138. doi: 10.2353/ajpath.2010.090832

PMCID:: PMC2832136

Abstract Article PDF–778K

Select item 384327510.

Clear cell papillary renal cell carcinoma: a clinicopathological study emphasizing ultrastructural features and cytogenetic heterogeneity

Shan-Shan Shi, Qin Shen, Qiu-Yuan Xia, Pin Tu, Qun-Li Shi, Xiao-Jun Zhou, Qiu Rao

Int J Clin Exp Pathol. 2013; 6(12): 2936–2942. Published online 2013 Nov 15.

PMCID:: PMC3843275

Abstract Article PDF–1.5M

Select item 425992511.

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Sajid Malik, Ferda E. Percin, Dorothea Bornholdt, Beate Albrecht, Antonio Percesepe, Manuela C. Koch, Antonio Landi, Barbara Fritz, Rizwan Khan, Sara Mumtaz, Nurten A. Akarsu, Karl-Heinz Grzeschik

Am J Hum Genet. 2014 Dec 4; 95(6): 649–659. doi: 10.1016/j.ajhg.2014.10.012

PMCID:: PMC4259925

Abstract Article PDF–854K

Select item 581637612.

Transcriptional regulation of ependymal cell maturation within the postnatal brain

Diana Vidovic, Raul Ayala Davila, Richard M. Gronostajski, Tracey J. Harvey, Michael Piper

Neural Dev. 2018; 13: 2. Published online 2018 Feb 16. doi: 10.1186/s13064-018-0099-4

PMCID:: PMC5816376

Abstract Article PDF–2.1M

Select item 634317113.

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

Monica De Luise, Vito Guarnieri, Claudio Ceccarelli, Leonardo D'Agruma, Anna Maria Porcelli, Giuseppe Gasparre

Oxid Med Cell Longev. 2019; 2019: 8069583. Published online 2019 Jan 9. doi: 10.1155/2019/8069583

PMCID:: PMC6343171

Abstract Article PDF–4.1M

Select item 653128414.

Concurrent lymphoma and hemophilia B in a pediatric patient: A case report

Guoyan Lu, Lina Qiao, Deyuan Li, Zhongqiang Liu, Fumin Zhao, Dan Yu

Medicine (Baltimore) 2019 May; 98(19): e15474. Published online 2019 May 13. doi: 10.1097/MD.0000000000015474

PMCID:: PMC6531284

Abstract Article PDF–548K

Select item 678355415.

Hemophilia A and B mice, but not VWF^−/−mice, display bone defects in congenital development and remodeling after injury

Sarah Taves, Junjiang Sun, Eric W. Livingston, Xin Chen, Jerome Amiaud, Regis Brion, William B. Hannah, Ted A. Bateman, Dominique Heymann, Paul E. Monahan

Sci Rep. 2019; 9: 14428. Published online 2019 Oct 8. doi: 10.1038/s41598-019-50787-9

PMCID:: PMC6783554

Abstract Article PDF–4.0M

Select item 759242016.

Unaccompanied mechanosensory domain mediates low expression of glycoprotein Ibα: Implications for Bernard-Soulier syndrome

Yue Tao, Chi Gan, Xiaoqin Zhang, Lanbo Liu, Philip M. Zakas, Christopher B. Doering, Xi Mo, Renhao Li

J Thromb Haemost. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: J Thromb Haemost. 2020 Feb; 18(2): 510–517. Published online 2019 Dec 22. doi: 10.1111/jth.14684

PMCID:: PMC7592420

Abstract Article PDF–775K

Select item 775700617.

The evolution of factor XI and the kallikrein-kinin system

Michał B. Ponczek, Aleksandr Shamanaev, Alec LaPlace, S. Kent Dickeson, Priyanka Srivastava, Mao-fu Sun, Andras Gruber, Christian Kastrup, Jonas Emsley, David Gailani

Blood Adv. 2020 Dec 22; 4(24): 6135–6147. Published online 2020 Dec 11. doi: 10.1182/bloodadvances.2020002456

PMCID:: PMC7757006

Abstract Article PDF–1.5M

Select item 868369718.

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

Joshua Hodgson, Lidia Ruiz‐Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak‐Toydemir, Whitney Wooderchak‐Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. Upton

Mol Genet Genomic Med. 2021 Dec; 9(12): e1685. Published online 2021 Apr 9. doi: 10.1002/mgg3.1685