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Select item 31772801.

Dynamic Alternations in Cellular and Molecular Components during Blossom-End Rot Development in Tomatoes Expressing sCAX1, a Constitutively Active Ca²⁺/H⁺ Antiporter from Arabidopsis

Sergio Tonetto de Freitas, Malkeet Padda, Qingyu Wu, Sunghun Park, Elizabeth J. Mitcham

Plant Physiol. 2011 Jun; 156(2): 844–855. Published online 2011 Apr 4. doi: 10.1104/pp.111.175208

PMCID:: PMC3177280

Abstract Article PDF–1.6M

Select item 12837582.

Increased Calcium Levels and Prolonged Shelf Life in Tomatoes Expressing Arabidopsis H⁺/Ca²⁺ Transporters

Sunghun Park, Ning Hui Cheng, Jon K. Pittman, Kil Sun Yoo, Jungeun Park, Roberta H. Smith, Kendal D. Hirschi

Plant Physiol. 2005 Nov; 139(3): 1194–1206. doi: 10.1104/pp.105.066266

PMCID:: PMC1283758

Abstract Article PDF–481K

Select item 22341613.

Nutritional impact of elevated calcium transport activity in carrots

Jay Morris, Keli M. Hawthorne, Tim Hotze, Steven A. Abrams, Kendal D. Hirschi

Proc Natl Acad Sci U S A. 2008 Feb 5; 105(5): 1431–1435. Published online 2008 Jan 17. doi: 10.1073/pnas.0709005105

PMCID:: PMC2234161

Abstract Article PDF–454K

Select item 32521034.

The Role of CAX1 and CAX3 in Elemental Distribution and Abundance in Arabidopsis Seed

Tracy Punshon, Kendal Hirschi, Jian Yang, Antonio Lanzirotti, Barry Lai, Mary Lou Guerinot

Plant Physiol. 2012 Jan; 158(1): 352–362. doi: 10.1104/pp.111.184812

PMCID:: PMC3252103

Abstract Article PDF–1.8M

Select item 37926915.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Melody Caramins, James G. Colebatch, Matthew N. Bainbridge, Steven S. Scherer, Charles K. Abrams, Emma L. Hackett, Mona M. Freidin, Shalini N. Jhangiani, Min Wang, Yuanqing Wu, Donna M. Muzny, Robert Lindeman, Richard A. Gibbs

Hum Mol Genet. 2013 Nov 1; 22(21): 4329–4338. Published online 2013 Jun 16. doi: 10.1093/hmg/ddt282

PMCID:: PMC3792691

Abstract Article PDF–913K

Select item 27971786.

Functional Studies of Split Arabidopsis Ca²⁺/H⁺ Exchangers

Jian Zhao, James M. Connorton, YingQing Guo, Xiangkai Li, Toshiro Shigaki, Kendal D. Hirschi, Jon K. Pittman

J Biol Chem. 2009 Dec 4; 284(49): 34075–34083. Published online 2009 Oct 9. doi: 10.1074/jbc.M109.070235

PMCID:: PMC2797178

Abstract Article PDF–2.8M

Select item 70066447.

Fractionating of Calcium in Tuber and Leaf Tissues Explains the Calcium Deficiency Symptoms in Potato Plant Overexpressing CAX1

Hongbo Gao, Xiaolei Wu, Cinthya Zorrilla, Sandra E. Vega, Jiwan P. Palta

Front Plant Sci. 2019; 10: 1793. Published online 2020 Jan 31. doi: 10.3389/fpls.2019.01793

PMCID:: PMC7006644

Abstract Article PDF–3.4M

Select item 111032518.

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A. Gerencser, Sally K. Mak, Michelle E. Ehrlich, D. Cristopher Bragg, Birgit Schilling, Lisa M. Ellerby

Neurobiol Dis. Author manuscript; available in PMC 2024 May 20.

Published in final edited form as: Neurobiol Dis. 2024 Jan; 190: 106367. Published online 2023 Nov 30. doi: 10.1016/j.nbd.2023.106367

PMCID:: PMC11103251

Abstract Article PDF–3.0M

Select item 16840069.

A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages.

A M Ferraris, C Melani, L Canepa, T Meloni, G Forteleoni, G F Gaetani

Am J Hum Genet. 1987 Jan; 40(1): 32–38.

PMCID:: PMC1684006

Summary Page Browse PDF–740K

Select item 180844210.

Cone rod dystrophies

Christian P Hamel

Orphanet J Rare Dis. 2007; 2: 7. Published online 2007 Feb 1. doi: 10.1186/1750-1172-2-7

PMCID:: PMC1808442

Abstract Article PDF–749K

Select item 321271911.

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

Petter Strømme, Kostantin Dobrenis, Roy V. Sillitoe, Maria Gulinello, Nafeeza F. Ali, Cristin Davidson, Matthew C. Micsenyi, Gloria Stephney, Linda Ellevog, Arne Klungland, Steven U. Walkley

Brain. 2011 Nov; 134(11): 3369–3383. Published online 2011 Sep 29. doi: 10.1093/brain/awr250

PMCID:: PMC3212719

Abstract Article PDF–2.0M

Select item 335173912.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18

PMCID:: PMC3351739

Abstract Article PDF–1.4M

Select item 375184913.

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E Bonnen

BMC Med Genet. 2013; 14: 83. Published online 2013 Aug 16. doi: 10.1186/1471-2350-14-83

PMCID:: PMC3751849

Abstract Article PDF–330K

Select item 380905814.

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

Marta Romani, Alessia Micalizzi, Enza Maria Valente

Lancet Neurol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Lancet Neurol. 2013 Sep; 12(9): 10.1016/S1474-4422(13)70136-4. Published online 2013 Jul 17. doi: 10.1016/S1474-4422(13)70136-4

PMCID:: PMC3809058

Abstract Article PDF–1.3M

Select item 430479615.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Abstract Article PDF–1.2M

Select item 440629316.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

David Cunningham, Andrea E. DeBarber, Natalie Bir, Laura Binkley, Louise S. Merkens, Robert D. Steiner, Gail E. Herman

Hum Mol Genet. 2015 May 15; 24(10): 2808–2825. Published online 2015 Feb 4. doi: 10.1093/hmg/ddv042

PMCID:: PMC4406293

Abstract Article PDF–1.2M

Select item 472423117.

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: Case report and literature review

Kotaro Ogaki, Shunsuke Koga, Naoya Aoki, Wenlang Lin, Kinuko Suzuki, Owen A. Ross, Dennis W. Dickson

Neuropathology. Author manuscript; available in PMC 2017 Feb 1.

Published in final edited form as: Neuropathology. 2016 Feb; 36(1): 64–76. Published online 2015 Jul 31. doi: 10.1111/neup.12230

PMCID:: PMC4724231

Abstract Article PDF–3.2M

Select item 608934918.

Current concepts in the treatment of hereditary ataxias

Pedro Braga-Neto, José Luiz Pedroso, Sheng-Han Kuo, Marcondes C. França, Junior, Hélio Afonso Ghizoni Teive, Orlando Graziani Povoas Barsottini

Arq Neuropsiquiatr. Author manuscript; available in PMC 2018 Aug 13.

Published in final edited form as: Arq Neuropsiquiatr. 2016 Mar; 74(3): 244–252. doi: 10.1590/0004-282X20160038

PMCID:: PMC6089349

Abstract Article PDF–335K

Select item 629459319.

Possible Role of the Polyglutamine Elongation in Evolution of Amyloid-Related Evolvability

Makoto Hashimoto, Gilbert Ho, Yoshiki Takamatsu, Ryoko Wada, Shuei Sugama, Takato Takenouchi, Eliezer Masliah, Masaaki Waragai

J Huntingtons Dis. 2018; 7(4): 297–307. Prepublished online 2018 Oct 26. Published online 2018 Nov 24. doi: 10.3233/JHD-180309

PMCID:: PMC6294593

Abstract Article PDF–583K

Select item 661247720.

The Expanding Clinical Universe of Polyglutamine Disease

Shanshan Huang, Suiqiang Zhu, Xiao-Jiang Li, Shihua Li

Neuroscientist. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Neuroscientist. 2019 Oct; 25(5): 512–520. Published online 2019 Jan 7. doi: 10.1177/1073858418822993

PMCID:: PMC6612477

Abstract Article PDF–1.3M

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PMC Articles for MedGen (Select 163229) (31)
PMC
cyclic AMP-responsive element-binding protein 3-like protein 3 isoform a [Homo s...
cyclic AMP-responsive element-binding protein 3-like protein 3 isoform a [Homo sapiens]
gi|14211949|ref|NP_115996.1|

Protein
Hua gabonii ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL)...
Hua gabonii ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|257783299|gb|FJ670185.1|

Nucleotide
Homo sapiens ATPase plasma membrane Ca2+ transporting 3 (ATP2B3), RefSeqGene on ...
Homo sapiens ATPase plasma membrane Ca2+ transporting 3 (ATP2B3), RefSeqGene on chromosome X
gi|270289742|ref|NG_015896.1|

Nucleotide
UI-H-BI1-adc-e-01-0-UI.s1 NCI_CGAP_Sub3 Homo sapiens cDNA clone IMAGE:2716488 3'...
UI-H-BI1-adc-e-01-0-UI.s1 NCI_CGAP_Sub3 Homo sapiens cDNA clone IMAGE:2716488 3', mRNA sequence
gi|6141987|gnl|dbEST|3289716|gb|AW1 .1|

Nucleotide

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