| Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency. | Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency.
Helvacıoğlu D, Güran T., Free PMC Article | 03/13/2024 |
| Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2. | Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.
Zhang L, Song W, Li T, Mu Y, Zhang P, Hu J, Lin H, Zhang J, Gao H, Zhang L. | 07/10/2023 |
| Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families. | Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Cao Y, Guan X, Li S, Wu N, Chen X, Yang T, Yang B, Zhao X., Free PMC Article | 05/7/2022 |
| Structural basis for the substrate recognition mechanism of ATP-sulfurylase domain of human PAPS synthase 2. | Structural basis for the substrate recognition mechanism of ATP-sulfurylase domain of human PAPS synthase 2.
Zhang P, Zhang L, Hou Z, Lin H, Gao H, Zhang L. | 01/15/2022 |
| Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic Carcinogenesis. | Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic Carcinogenesis.
Xu P, Xi Y, Zhu J, Zhang M, Luka Z, Stolz DB, Cai X, Xie Y, Xu M, Ren S, Huang Z, Yang D, York JD, Ma X, Xie W., Free PMC Article | 10/30/2021 |
| In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients. | PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders Study, Smithson S. | 08/12/2020 |
| Depletion of PAPSS2 in MCF7 and MDA-MB-231 cells results in reduced cell migration, while overexpression of PAPSS2 promotes cell migration. | Enhanced PAPSS2/VCAN sulfation axis is essential for Snail-mediated breast cancer cell migration and metastasis.
Zhang Y, Zou X, Qian W, Weng X, Zhang L, Zhang L, Wang S, Cao X, Ma L, Wei G, Wu Y, Hou Z., Free PMC Article | 06/6/2020 |
| Energy-dependent scoring of docking solutions identified the interaction as specific for the PAPSS2 and SULT2A1 isoforms | Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1.
Mueller JW, Idkowiak J, Gesteira TF, Vallet C, Hardman R, van den Boom J, Dhir V, Knauer SK, Rosta E, Arlt W., Free PMC Article | 01/26/2019 |
| In an Amish population, using expression profiling of genes within regions identified by a meta-analysis GWAS of survival to age 90, we localized PAPSS2 as a candidate gene for extended life span. These results provide novel evidence for genetic loci implicated in longevity and incorporate gene expression results from a unique population to locate positional candidates. | Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene.
Yerges-Armstrong LM, Chai S, O'Connell JR, Curran JE, Blangero J, Mitchell BD, Shuldiner AR, Damcott CM., Free PMC Article | 07/29/2017 |
| Silencing of SULT1A1 and PAPSS2 led to a significant decrease in aristolactam-DNA levels in both cell lines following exposure to AA-I, indicating the critical role for sulfonation in the activation of AA-I in vivo Since HK-2 cells proved relatively resistant to knockdown with siRNAs | Sulfotransferase-1A1-dependent bioactivation of aristolochic acid I and N-hydroxyaristolactam I in human cells.
Hashimoto K, Zaitseva IN, Bonala R, Attaluri S, Ozga K, Iden CR, Johnson F, Moriya M, Grollman AP, Sidorenko VS., Free PMC Article | 05/20/2017 |
| Our results indicate that FGFR2 and PAPSS2 may play an important role in the regulation of magnesium homeostasis in children of European-American ancestry. | Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.
Chang X, Glessner J, Tin A, Li J, Guo Y, Wei Z, Liu Y, Mentch FD, Hou C, Zhao Y, Wang T, Qiu H, Kim C, Sleiman PM, Hakonarson H., Free PMC Article | 12/17/2016 |
| Results suggest that the loss of the susceptible region on chromosome 10q, which implicates PTEN, FAS and PAPSS2 may serve as genetic predictors of PSA recurrence after radical prostatectomy. | Exploring prostate cancer genome reveals simultaneous losses of PTEN, FAS and PAPSS2 in patients with PSA recurrence after radical prostatectomy.
Ibeawuchi C, Schmidt H, Voss R, Titze U, Abbas M, Neumann J, Eltze E, Hoogland AM, Jenster G, Brandt B, Semjonow A., Free PMC Article | 10/3/2015 |
| Direct in vivo evidence for the significant functional impact of mutant PAPSS2 on DHEA sulfation and androgen activation. | PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W., Free PMC Article | 08/8/2015 |
| PAPSS2-brachyolmia includes phenotypes of the conventional clinical concept of brachyolmia, the Hobaek and Toledo types, and is associated with abnormal androgen metabolism. | Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. | 07/26/2014 |
| Papss2 expression is reduced in articular cartilage following transforming growth factor-beta administration. | Altered responsiveness to TGF-β results in reduced Papss2 expression and alterations in the biomechanical properties of mouse articular cartilage.
Ramaswamy G, Sohn P, Eberhardt A, Serra R., Free PMC Article | 05/25/2013 |
| PAPSS2 is the disease gene for an autosomal recessive brachyolmia. | PAPSS2 mutations cause autosomal recessive brachyolmia.
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. | 12/29/2012 |
| Unusual localisation signals of both PAPS synthase isoforms, are described. | Human PAPS synthase isoforms are dynamically regulated enzymes with access to nucleus and cytoplasm.
Schröder E, Gebel L, Eremeev AA, Morgner J, Grum D, Knauer SK, Bayer P, Mueller JW., Free PMC Article | 05/12/2012 |
| Thirty-seven novel SNPs in the PAPSS2 gene and in two intergenic regions on chromosomes 2q33.1 and 18p11.32 were associated with exercise participation. | Genome-wide association study of exercise behavior in Dutch and American adults.
De Moor MH, Liu YJ, Boomsma DI, Li J, Hamilton JJ, Hottenga JJ, Levy S, Liu XG, Pei YF, Posthuma D, Recker RR, Sullivan PF, Wang L, Willemsen G, Yan H, De Geus EJ, Deng HW, De Moor MH, Liu YJ, Boomsma DI, Li J, Hamilton JJ, Hottenga JJ, Levy S, Liu XG, Pei YF, Posthuma D, Recker RR, Sullivan PF, Wang L, Willemsen G, Yan H, De Geus EJ, Deng HW., Free PMC Articles: PMC2895958, PMC2895958 | 11/12/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide association study of exercise behavior in Dutch and American adults.
De Moor MH, Liu YJ, Boomsma DI, Li J, Hamilton JJ, Hottenga JJ, Levy S, Liu XG, Pei YF, Posthuma D, Recker RR, Sullivan PF, Wang L, Willemsen G, Yan H, De Geus EJ, Deng HW, De Moor MH, Liu YJ, Boomsma DI, Li J, Hamilton JJ, Hottenga JJ, Levy S, Liu XG, Pei YF, Posthuma D, Recker RR, Sullivan PF, Wang L, Willemsen G, Yan H, De Geus EJ, Deng HW., Free PMC Articles: PMC2895958, PMC2895958 | 12/2/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S. | 03/13/2008 |
| Transcriptional regulation of human 3'-phosphoadenosine 5'-phosphosulphate synthase 2. | Transcriptional regulation of human 3'-phosphoadenosine 5'-phosphosulphate synthase 2.
Shimizu C, Fuda H, Lee YC, Strott CA., Free PMC Article | 01/21/2010 |