PMC Links for Gene (Select 10058) - PMC

Colin P. Farrell, Gäel Nicolas, Robert J. Desnick, Charles J. Parker, Jerome Lamoril, Laurent Gouya, Zoubida Karim, Dimitri Tchernitchko, Brenden Chan, Herve Puy, John D. Phillips

Blood Adv. 2022 Feb 8; 6(3): 760–766. Published online 2022 Jan 27. doi: 10.1182/bloodadvances.2021005484

PMCID:: PMC8945301

Abstract Article PDF–938K

Select item 86845004.

Substrate specificity of Chondroitinase ABC I based on analyses of biochemical reactions and crystal structures in complex with disaccharides

Makoto Takashima, Ippei Watanabe, Akimasa Miyanaga, Tadashi Eguchi

Glycobiology. 2021 Nov; 31(11): 1571–1581. Published online 2021 Aug 12. doi: 10.1093/glycob/cwab086

PMCID:: PMC8684500

Abstract Article PDF–1.2M

Select item 76799685.

Cryo‐electron microscopy structure of human ABCB6 transporter

Chunyu Wang, Can Cao, Nan Wang, Xiangxi Wang, Xianping Wang, Xuejun C. Zhang

Protein Sci. 2020 Dec; 29(12): 2363–2374. Published online 2020 Oct 15. doi: 10.1002/pro.3960

PMCID:: PMC7679968

Abstract Article PDF–2.4M

Select item 53948816.

New insights on hereditary erythrocyte membrane defects

Immacolata Andolfo, Roberta Russo, Antonella Gambale, Achille Iolascon

Haematologica. 2016 Nov; 101(11): 1284–1294. doi: 10.3324/haematol.2016.142463

PMCID:: PMC5394881

Abstract Article PDF–1.2M

Select item 51146607.

Dormant cancer cells accumulate high protoporphyrin IX levels and are sensitive to 5-aminolevulinic acid-based photodynamic therapy

Taku Nakayama, Shimpei Otsuka, Tatsuya Kobayashi, Hodaka Okajima, Kentaro Matsumoto, Yuichiro Hagiya, Keiji Inoue, Taro Shuin, Motowo Nakajima, Tohru Tanaka, Shun-ichiro Ogura

Sci Rep. 2016; 6: 36478. Published online 2016 Nov 18. doi: 10.1038/srep36478

PMCID:: PMC5114660

Abstract Article PDF–1.9M

Select item 49675698.

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

Immacolata Andolfo, Roberta Russo, Francesco Manna, Gianluca De Rosa, Antonella Gambale, Soha Zouwail, Nicola Detta, Catia Lo Pardo, Seth L. Alper, Carlo Brugnara, Alok K. Sharma, Lucia De Franceschi, Achille Iolascon

Haematologica. 2016 Aug; 101(8): 909–917. doi: 10.3324/haematol.2016.142372

PMCID:: PMC4967569

Abstract Article PDF–2.3M

Select item 44106739.

Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein

Katalin Kiss, Nora Kucsma, Anna Brozik, Gabor E. Tusnady, Ptissam Bergam, Guillaume vanNiel, Gergely Szakacs

Biochem J. 2015 Apr 1; 467(Pt 1): 127–139. Prepublished online 2015 Jan 28. Published online 2015 Mar 20. doi: 10.1042/BJ20141085

PMCID:: PMC4410673

Abstract Article PDF–2.5M

Select item 421611410.

Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

Magdalena Koszarska, Nora Kucsma, Katalin Kiss, Gyorgy Varady, Melinda Gera, Geza Antalffy, Hajnalka Andrikovics, Attila Tordai, Maciej Studzian, Dominik Strapagiel, Lukasz Pulaski, Yoshihiko Tani, Balazs Sarkadi, Gergely Szakacs

PLoS One. 2014; 9(10): e111590. Published online 2014 Oct 31. doi: 10.1371/journal.pone.0111590

PMCID:: PMC4216114

Abstract Article PDF–2.9M

Select item 382935111.

Efficient Purification and Reconstitution of ATP Binding Cassette Transporter B6 (ABCB6) for Functional and Structural Studies

Hemantkumar Chavan, Mohiuddin Md. Taimur Khan, George Tegos, Partha Krishnamurthy

J Biol Chem. 2013 Aug 2; 288(31): 22658–22669. Published online 2013 Jun 21. doi: 10.1074/jbc.M113.485284

PMCID:: PMC3829351

Abstract Article PDF–1.9M

Select item 381821912.

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, Yang Zhou, Lin Gao, Xue-Jun Shang, Tong Ni, Wei-Ping Wang, Xiao-Buo Fan, Hong-Lin Yin, Shao-Jun Jiang, Bing Yao, Yu-An Hu, Gang Wang, Xiao-Jun Li

PLoS One. 2013; 8(11): e79808. Published online 2013 Nov 5. doi: 10.1371/journal.pone.0079808

PMCID:: PMC3818219

Abstract Article PDF–1.8M

Select item 366420413.

The human porphyrin transporter ABCB6 is dispensable for erythropoiesis but responsible for the new blood group system Langereis

Virginie Helias, Carole Saison, Bryan A. Ballif, Thierry Peyrard, Junko Takahashi, Hideo Takahashi, Mitsunobu Tanaka, Jean-Charles Deybach, Hervé Puy, Maude Le Gall, Camille Sureau, Bach-Nga Pham, Pierre-Yves Le Pennec, Yoshihiko Tani, Jean-Pierre Cartron, Lionel Arnaud

Nat Genet. Author manuscript; available in PMC 2013 May 26.

Published in final edited form as: Nat Genet. 2012 Jan 15; 44(2): 170–173. Published online 2012 Jan 15. doi: 10.1038/ng.1069

PMCID:: PMC3664204

Abstract Article PDF–2.0M

Select item 366122414.

ABCB6 mRNA and DNA methylation levels serve as useful biomarkers for prediction of early intrahepatic recurrence of hepatitis C virus-related hepatocellular carcinoma

RYOUICHI TSUNEDOMI, NORIO IIZUKA, KIYOSHI YOSHIMURA, MICHIHISA IIDA, MASAHITO TSUTSUI, NORIAKI HASHIMOTO, SHINSUKE KANEKIYO, KAZUHIKO SAKAMOTO, TAKAO TAMESA, MASAAKI OKA

Int J Oncol. 2013 May; 42(5): 1551–1559. Published online 2013 Mar 8. doi: 10.3892/ijo.2013.1854

PMCID:: PMC3661224

Abstract Article PDF–516K

Select item 320437215.

Functional significance of the ATP‐binding cassette transporter B6 in hepatocellular carcinoma

Kishore Polireddy, Hemantkumar Chavan, Bashar A. Abdulkarim, Partha Krishnamurthy

Mol Oncol. 2011 Oct; 5(5): 410–425. Published online 2011 Jul 28. doi: 10.1016/j.molonc.2011.07.005

PMCID:: PMC3204372

Abstract Article PDF–1.9M

Select item 391192416.

Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi’an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E. A. Common, Birgitte E. Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang

PLoS One. 2014; 9(2): e87250. Published online 2014 Feb 3. doi: 10.1371/journal.pone.0087250

PMCID:: PMC3911924

Abstract Article PDF–4.2M

Select item 325732217.

ABCB6 Mutations Cause Ocular Coloboma

Lejing Wang, Fei He, Juan Bu, Xiaqi Liu, Wei Du, Jiamei Dong, Jeffrey D. Cooney, Sushil Kumar Dubey, Yi Shi, Bo Gong, Jing Li, Paul F. McBride, Yanlei Jia, Fang Lu, Kathleen A. Soltis, Ying Lin, Prasanthi Namburi, Chen Liang, Periasamy Sundaresan, Barry H. Paw, Dean Y. Li, John D. Phillips, Zhenglin Yang

Am J Hum Genet. 2012 Jan 13; 90(1): 40–48. doi: 10.1016/j.ajhg.2011.11.026

Correction in:: Am J Hum Genet. 2012 Aug 10; 91(2): 397.

PMCID:: PMC3257322

Abstract Article PDF–1.0M

Select item 323438018.

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Am J Hum Genet. 2011 Dec 9; 89(6): 745–750. doi: 10.1016/j.ajhg.2011.10.011

PMCID:: PMC3234380

Abstract Article PDF–696K

Select item 498751219.

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

Yu Fukuda, Pak Leng Cheong, John Lynch, Cheryl Brighton, Sharon Frase, Vasileios Kargas, Evadnie Rampersaud, Yao Wang, Vijay G. Sankaran, Bing Yu, Paul A. Ney, Mitchell J. Weiss, Peter Vogel, Peter J. Bond, Robert C. Ford, Ronald J. Trent, John D. Schuetz

Nat Commun. 2016; 7: 12353. Published online 2016 Aug 10. doi: 10.1038/ncomms12353

PMCID:: PMC4987512

Abstract Article PDF–1.6M

Select item 344253620.

Polycyclic Aromatic Hydrocarbons (PAHs) Mediate Transcriptional Activation of the ATP Binding Cassette Transporter ABCB6 Gene via the Aryl Hydrocarbon Receptor (AhR)

Hemantkumar Chavan, Partha Krishnamurthy

J Biol Chem. 2012 Sep 14; 287(38): 32054–32068. Published online 2012 Jul 2. doi: 10.1074/jbc.M112.371476

PMCID:: PMC3442536

Abstract Article PDF–2.8M

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