| Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis. | Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Chegini M, Eslami M, Motavaf M, Memarsadeghi O, Hoseini A, Torab E, Hoseininasab F, Amiri H, Ramandi S, Mostofinezhad N, Keivani F, Ghaffari SR, Rafati M. | 12/18/2023 |
| Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients. | Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.
Li J, Tang LL, Ma J., Free PMC Article | 07/9/2022 |
| Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. | Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J., Free PMC Article | 07/24/2021 |
| Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking. | Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
Meyer JM, Crumrine D, Schneider H, Dick A, Schmuth M, Gruber R, Radner FPW, Grond S, Wakefield JS, Mauro TM, Elias PM., Free PMC Article | 05/22/2021 |
| A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree. | Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
Alavi A, Darki F, Bidgoli MMR, Zare-Abdollahi D, Moini A, Shahshahani MM, Fischer J, Elahi E. | 06/27/2020 |
| The rare homozygous ALOX12B mutation found in Patient 5 causes a change in a conserved residue; Leu315 into a proline in the catalytic domain of 12R-LOX. | Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F, Mohamed M, Nair P, Saif F, Mustafa EM, Bizzari S, Al-Ali MT, Hamzeh AR. | 11/25/2017 |
| report adds information on the clinical picture of autosomal recessive congenital ichthyosis caused by ALOX12B mutations | A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.
Lolas IB, Sommerlund M, Okkels H, Ramsing M, Petersen MB. | 04/22/2017 |
| We found that the contribution of the ALOX12B gene to the pathogenesis of Autosomal Recessive Congenital Ichthyosis to be as important as that of TGM1 in families of Arab Muslim origin | Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E. | 07/26/2014 |
| Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis. [review] | The role of lipoxygenases in epidermis.
Krieg P, Fürstenberger G. | 04/19/2014 |
| This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3. [review] | The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier.
Muñoz-Garcia A, Thomas CP, Keeney DS, Zheng Y, Brash AR., Free PMC Article | 04/19/2014 |
| Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these LOXs that was three times the normal intensity. | The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
Li H, Loriè EP, Fischer J, Vahlquist A, Törmä H. | 02/16/2013 |
| It was shown that 12R-lipoxygenase is involved in MUC5AC expression via ERK- and Sp1-signalling pathways. | A role for 12R-lipoxygenase in MUC5AC expression by respiratory epithelial cells.
Garcia-Verdugo I, BenMohamed F, Tattermusch S, Leduc D, Charpigny G, Chignard M, Ollero M, Touqui L. | 02/9/2013 |
| co-overproduction of the two chaperones with 12R-LOX resulted in increased solubility of 12R-LOX and allowed the purification of milligram amounts of active enzyme for structural studies by X-ray diffraction | Cloning, expression, purification, crystallization and preliminary X-ray diffraction studies of a 12R-LOX-chaperone complex.
Deb G, Boeshanes K, Idler WK, Ahvazi B., Free PMC Article | 10/15/2011 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Polymorphisms in innate immunity genes and risk of childhood leukemia.
Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ, Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N, Kang D., Free PMC Article | 06/30/2010 |
| ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations | Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J. | 02/22/2010 |
| 12-R-LOX and COX-2 play critical roles in the regulation of growth in epidermoid carcinoma | Inhibition of 12-LOX and COX-2 reduces the proliferation of human epidermoid carcinoma cells (A431) by modulating the ERK and PI3K-Akt signalling pathways.
Agarwal S, Achari C, Praveen D, Roy KR, Reddy GV, Reddanna P. | 01/25/2010 |
| presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase [hepoxilin A3 synthase] | Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.
Nigam S, Zafiriou MP, Deva R, Kerstin N, Geilen C, Ciccoli R, Sczepanski M, Lohse M. | 01/21/2010 |
| mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B may have roles in autosomal recessive congenital ichthyosis | Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC, Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. | 01/21/2010 |
| Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
Palmieri RT, Wilson MA, Iversen ES, Clyde MA, Calingaert B, Moorman PG, Poole C, Anderson AR, Anderson S, Anton-Culver H, Beesley J, Hogdall E, Brewster W, Carney ME, Chen X, Chenevix-Trench G, Chang-Claude J, Cunningham JM, Dicioccio RA, Doherty JA, Easton DF, Edlund CK, Gayther SA, Gentry-Maharaj A, Goode EL, Goodman MT, Kjaer SK, Hogdall CK, Hopkins MP, Jenison EL, Blaakaer J, Lurie G, McGuire V, Menon U, Moysich KB, Ness RB, Pearce CL, Pharoah PD, Pike MC, Ramus SJ, Rossing MA, Song H, Terada KY, Vandenberg D, Vierkant RA, Wang-Gohrke S, Webb PM, Whittemore AS, Wu AH, Ziogas A, Berchuck A, Schildkraut JM, Ovarian Cancer Association Consortium, Australian Cancer Study (Ovarian Cancer Group), Australian Ovarian Cancer Study Group., Free PMC Article | 01/11/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesRisk of meningioma and common variation in genes related to innate immunity.
Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M, Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ, Inskip PD. Common variation in genes related to innate immunity and risk of adult glioma.
Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women.
Lee JY, Park AK, Lee KM, Park SK, Han S, Han W, Noh DY, Yoo KY, Kim H, Chanock SJ, Rothman N, Kang D. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC, Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Gene variants associated with ischemic stroke: the cardiovascular health study.
Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.
Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR, Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane JP, Ellis SG, Tracy RP, Devlin JJ, Psaty BM. | 12/3/2008 |
| clinical & molecular features of 2 cases of self-healing collodion phenotype that developed mild ichthyosiform erythroderma; both patients were compound heterozygous for novel ALOX12B mutations | Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML. | 01/21/2010 |
| Formation of a ligand for the nuclear receptor PPARalpha may be one possibility by which 12R-LOX and eLOX3 contribute to epidermal differentiation. | Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.
Yu Z, Schneider C, Boeglin WE, Brash AR. | 01/21/2010 |
| Our data contribute to an enlargement of the spectrum of mutations for the development of efficient molecular genetic tests for analysis of at risk individuals whose carrier status is unknown. | Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. | 01/21/2010 |
| Isoenzyme is characterized. | Characterization of epidermal 12(S) and 12(R) lipoxygenases.
McDonnell M, Li H, Funk CD. | 01/21/2010 |
| 12R-LOX hydrolase functions in the normal process of skin differentiation, and that the loss of function mutations are the basis of the LOX-dependent form of Non-bullous congenital ichthyosiform erythroderma. | Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.
Yu Z, Schneider C, Boeglin WE, Brash AR. | 01/21/2010 |