Isabel Tapia Paez

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Articles

Article: JID INNOVATIONS. 2024;4(4):100284
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.
Wang S; Elmgren JK; Eisfeldt J; Asad S; Ek M; Bilcha K; Befekadu A; Wahlgren C-F; Nordenskjöld M; Taylan F; Tapia-Paez I; Bradley M
Article: EMBO MOLECULAR MEDICINE. 2024;16(3):596-615
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Ejstrup L; Iversen L; Lindqvist U; Alm JJ; Eisfeldt J; Zheng X; Catrina S-B; Taylan F; Vaz R; Stahle M; Tapia-Paez I
Article: BMC MOLECULAR AND CELL BIOLOGY. 2023;24(1):20
Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2
Bieder A; Chandrasekar G; Wason A; Erkelenz S; Gopalakrishnan J; Kere J; Tapia-Paez I
Journal article: 2023
ISIDLB1728 - Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Tapia-Paez I
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes
Sahlen P; Spalinskas R; Asad S; Das Mahapatra K; Hojer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Stahle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjold M; Taylan F; Bradley M; Tapia-Paez I
Article: MOLECULAR NEUROBIOLOGY. 2020;57(7):2944-2958
Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation
Bieder A; Yoshihara M; Katayama S; Krjutskov K; Falk A; Kere J; Tapia-Paez I
Article: BMC MEDICAL GENETICS. 2020;21(1):87
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Bieder A; Einarsdottir E; Matsson H; Nilsson HE; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Paez I
Article: SCIENTIFIC REPORTS. 2017;7(1):11458
Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth
Yu NY; Bieder A; Raman A; Mileti E; Katayama S; Einarsdottir E; Fredholm BB; Falk A; Tapia-Paez I; Daub CO; Kere J
Article: THE FASEB JOURNAL. 2016;30(10):3578-3587
Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs
Tammimies K; Bieder A; Lauter G; Sugiaman-Trapman D; Torchet R; Hokkanen M-E; Burghoorn J; Castren E; Kere J; Tapia-Paez I; Swoboda P
Article: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 2016;8:4
Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1
Massinen S; Wang J; Laivuori K; Bieder A; Paez IT; Jiao H; Kere J
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(1):81-92
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler M; Braun DA; Chandrasekar G; Gee HY; Klasson TD; Halbritter J; Bieder A; Porath JD; Airik R; Zhou W; LoTurco JJ; Che A; Otto EA; Boeckenhauer D; Sebire NJ; Honzik T; Harris PC; Koon SJ; Gunay-Aygun M; Saunier S; Zerres K; Bruechle NO; Drenth JPH; Pelletier L; Tapia-Paez I; Lifton RP; Giles RH; Kere J; Hildebrandt F
Journal article: CILIA. 2015;4(Suppl 1):p56
X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies
Lauter G; Tammimies K; Bieder A; Torchet R; Matsson H; Peyrard M; Burghoorn J; Castren E; Kere J; Tapia-Páez I; Swoboda P
Article: BIOLOGICAL PSYCHIATRY. 2013;73(6):583-590
Molecular Networks of DYX1C1 Gene Show Connection to Neuronal Migration Genes and Cytoskeletal Proteins
Tammimies K; Vitezic M; Matsson H; Le Guyader S; Burglin TR; Ohman T; Stromblad S; Daub CO; Nyman TA; Kere J; Tapia-Paez I
Article: PLOS ONE. 2013;8(5):e63123
The Zebrafish Orthologue of the Dyslexia Candidate Gene DYX1C1 Is Essential for Cilia Growth and Function
Chandrasekar G; Vesterlund L; Hultenby K; Tapia-Paez I; Kere J
Article: BEHAVIOR GENETICS. 2012;42(4):509-527
The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language
Anthoni H; Sucheston LE; Lewis BA; Tapia-Paez I; Fan X; Zucchelli M; Taipale M; Stein CM; Hokkanen M-E; Castren E; Pennington BF; Smith SD; Olson RK; Tomblin JB; Schulte-Koerne G; Noethen M; Schumacher J; Mueller-Myhsok B; Hoffmann P; Gilger JW; Hynd GW; Nopola-Hemmi J; Leppanen PHT; Lyytinen H; Schoumans J; Nordenskjold M; Spencer J; Stanic D; Boon WC; Simpson E; Makela S; Gustafsson J-A; Peyrard-Janvid M; Iyengar S; Kere J
Article: MOLECULAR ENDOCRINOLOGY. 2012;26(4):619-629
The rs3743205 SNP Is Important for the Regulation of the Dyslexia Candidate Gene DYX1C1 by Estrogen Receptor β and DNA Methylation
Tammimies K; Tapia-Paez I; Rueegg J; Rosin G; Kere J; Gustafsson J-A; Nalvarte I
Article: JOURNAL OF ALZHEIMER'S DISEASE. 2011;26(3):431-439
Study of Estrogen Receptor-α and Receptor-β Gene Polymorphisms on Alzheimer's Disease
Goumidi L; Dahlman-Wright K; Tapia-Paez I; Matsson H; Pasquier F; Amouyel P; Kere J; Lambert J-C; Meirhaeghe A
Article: PLOS ONE. 2011;6(6):e20580
Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons
Massinen S; Hokkanen M-E; Matsson H; Tammimies K; Tapia-Paez I; Dahlstrom-Heuser V; Kuja-Panula J; Burghoorn J; Jeppsson KE; Swoboda P; Peyrard-Janvid M; Toftgard R; Castren E; Kere J
Article: HUMAN MOLECULAR GENETICS. 2009;18(15):2802-2812
Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia
Massinen S; Tammimies K; Tapia-Paez I; Matsson H; Hokkanen M-E; Soderberg O; Landegren U; Castren E; Gustafsson J-A; Treuter E; Kere J
Article: PSYCHIATRIC GENETICS. 2009;19(2):59-63
Further evidence for DYX1C1 as a susceptibility factor for dyslexia
Dahdouh F; Anthoni H; Tapia-Paez I; Peyrard-Janvid M; Schulte-Koerne G; Warnke A; Remschmidt H; Ziegler A; Kere J; Mueller-Myhsok B; Noethen MM; Schumacher J; Zucchelli M
Article: THE FASEB JOURNAL. 2008;22(8):3001-3009
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia
Tapia-Paez I; Tammimies K; Massinen S; Roy AL; Kere J
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2007;81(3):467-474
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells
Otonkoski T; Jiao H; Kaminen-Ahola N; Tapia-Paez I; Ullah MS; Parton LE; Schuit F; Quintens R; Sipilae I; Mayatepek E; Meissner T; Halestrap AP; Rutter GA; Kere J
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2004;13(2):273-279
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
Mantripragada KK; Tapia-Páez I; Blennow E; Nilsson P; Wedell A; Dumanski JP
Article: HUMAN MOLECULAR GENETICS. 2002;11(25):3221-3229
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Buckley PG; Mantripragada KK; Benetkiewicz M; Tapia-Páez I; de Ståhl TD; Rosenquist M; Ali H; Jarbo C; de Bustos C; Hirvelä C; Wilén BS; Fransson I; Thyr C; Johnsson BI; Bruder CEG; Menzel U; Hergersberg M; Mandahl N; Blennow E; Wedell A; Beare DM; Collins JE; Dunham I; Albertson D; Pinkel D; Bastian BC; Faruqi AF; Lasken RS; Ichimura K; Collins VP; Dumanski JP
Article: HUMAN GENETICS. 2002;110(5):439-443
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Article: HUMAN GENETICS. 2001;109(5):551-558
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson SA; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson N; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Article: HUMAN GENETICS. 2001;109(2):167-177
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
Tapia-Páez I; Kost-Alimova M; Hu P; Roe BA; Blennow E; Fedorova L; Imreh S; Dumanski JP
Article: HUMAN MOLECULAR GENETICS. 2001;10(3):271-282
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Bruder CEG; Hirvelä C; Tapia-Paez I; Fransson I; Segraves R; Hamilton G; Zhang XX; Evans DG; Wallace AJ; Baser ME; Zucman-Rossi J; Hergersberg M; Boltshauser E; Papi L; Rouleau GA; Poptodorov G; Jordanova A; Rask-Andersen H; Kluwe L; Mautner V; Sainio M; Hung G; Mathiesen T; Möller C; Pulst SM; Harder H; Heiberg A; Honda M; Miimura M; Sahlén S; Blennow E; Albertson DG; Pinkel D; Dumanski JP
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2000;273(1):90-94
Characterization of five novel human genes in the 11q13-q22 region
O'Brien KP; Tapia-Páez I; Ståhle-Bäckdahl M; Kedra D; Dumanski JP
Article: HUMAN GENETICS. 2000;106(5):506-516
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
Tapia-Páez I; O'Brien KP; Kost-Alimova M; Sahlén S; Kedra D; Bruder CEG; Andersson B; Roe BA; Hu P; Imreh S; Blennow E; Dumanski JP
Article: NATURE. 1999;402(6761):489-495
The DNA sequence of human chromosome 22
Dunham I; Shimizu N; Roe BA; Chissoe S; Dunham I; Hunt AR; Collins JE; Bruskiewich R; Beare DM; Clamp M; Smink LJ; Ainscough R; Almeida JP; Babbage A; Bagguley C; Balley J; Barlow K; Bates KN; Beasley O; Bird CP; Blakey S; Bridgeman AM; Buck D; Burgess J; Burrill WD; Burton J; Carder C; Carter NP; Chen Y; Clark G; Clegg SM; Cobley V; Cole CG; Collier RE; Connor RE; Conroy D; Corby N; Coville GJ; Cox AV; Davis J; Dawson E; Dhami PD; Dockree C; Dodsworth SJ; Durbin RM; Ellington A; Evans KL; Fey JM; Fleming K; French L; Garner AA; Gilbert JGR; Goward ME; Grafham D; Griffiths MN; Hall C; Hall R; Hall-Tamlyn G; Heathcott RW; Ho S; Holmes S; Hunt SE; Jones MC; Kershaw J; Kimberley A; King A; Laird GK; Langford CF; Leversha MA; Lloyd C; Lloyd DM; Martyn ID; Mashreghi-Mohammadi M; Matthews L; McCann OT; McClay J; McLaren S; McMurray AA; Milne SA; Mortimore BJ; Odell CN; Pavitt R; Pearce AV; Pearson D; Phillimore BJ; Phillips SH; Plumb RW; Ramsay H; Ramsey Y; Rogers L; Ross MT; Scott CE; Sehra HK; Skuce CD; Smalley S; Smith ML; Soderlund C; Spragon L; Steward CA; Sulston JE; Swann RM; Vaudin M; Wall M; Wallis JM; Whiteley MN; Willey D; Williams L; Williams S; Williamson H; Wilmer TE; Wilming L; Wright CL; Hubbard T; Bentley DR; Beck S; Rogers J; Shimizu N; Minoshima S; Kawasaki K; Sasaki T; Asakawa S; Kudoh J; Shintani A; Shibuya K; Yoshizaki Y; Aoki N; Mitsuyama S; Roe BA; Chen F; Chu L; Crabtree J; Deschamps S; Do A; Do T; Dorman A; Fang F; Fu Y; Hu P; Hua A; Kenton S; Lai H; Lao HI; Lewis J; Lewis S; Lin SP; Loh P; Malaj E; Nguyen T; Pan H; Phan S; Qi S; Qian Y; Ray L; Ren Q; Shaull S; Sloan D; Song L; Wang Q; Wang Y; Wang Z; White J; Willingham D; Wu H; Yao Z; Zhan M; Zhang G; Chissoe S; Murray J; Miller N; Minx P; Fulton R; Johnson D; Bemis G; Bentley D; Bradshaw H; Bourne S; Cordes M; Du Z; Fulton L; Goela D; Graves T; Hawkins J; Hinds K; Kemp K; Latreille P; Layman D; Ozersky P; Rohlfing T; Scheet P; Walker C; Wamsley A; Wohldmann P; Pepin K; Nelson J; Korf I; Bedell JA; Hillier L; Mardis E; Waterston R; Wilson R; Emanuel BS; Shaikh T; Kurahashi H; Saitta S; Budarf ML; McDermid HE; Johnson A; Wong ACC; Morrow BE; Edelman L; Kim UJ; Shizuya H; Simon MI; Dumanski JP; Peyrard M; Kedra D; Seroussi E; Fransson I; Tapia I; Bruder CE; O'Brien KP
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Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(9):b21
LB1728 Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Wang S; Elmgren J; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Letter: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(7):1306-1309.e4
Baricitinib Blocks Cytokine-Mediated Downregulation of PAD1 in Human Keratinocytes: A Possible Molecular Link to the Effects of JAK Inhibitors in Atopic Dermatitis
Padhi A; Rekha S; Benrejdal L; Grundeken ME; Lourda M; Ehrstrom M; Eyerich K; Paez IT; Johansson EK; Bradley M; Bergman P; Lysell J
Preprint: BIORXIV. 2023
Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Ejstrup L; Iversen L; Lindqvist U; Alm JJ; Eisfeldt J; Zheng X; Catrina S-B; Taylan F; Vaz R; Ståhle M; Tapia-Paez I
Preprint: RESEARCH SQUARE. 2023
Genetic and protein interaction studies reveal pathway synergy between the ciliary dyslexia candidate genes DYX1C1 and DCDC2
Bieder A; Chandrasekar G; Wason A; Erkelenz S; Gopalakrishnan J; Tapia-Páez I; Kere J
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:389
Genetic and functional studies of novel candidate genes for Psoriatic Arthritis Mutilans
Wang S; Nikamo P; Vaz R; Taylan F; Eisfeldt J; Zheng X; Laasonen L; Tapia-Paez I
Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2023;143(9):B21
Searching for new candidate genes associated with atopic dermatitis in Ethiopian families
Wang S; Elmgren J; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Conference publication: ACTA DERMATO-VENEREOLOGICA. 2023;103:41
SEARCHING FOR NEW CANDIDATE GENES ASSOCIATED WITH ATOPIC DERMATITIS IN ETHIOPIANS
Sailan W; Julia E; Eisfeldt J; Asad S; Bilcha K; Befekadu A; Wahlgren C-F; Nordenskjold M; Taylan F; Tapia-Paez I; Bradley M
Conference publication: ACTA DERMATO-VENEREOLOGICA. 2023;103:42-43
EXPLORING THE ROLE OF THE ADO GENE IN ATOPIC DERMATITIS
Wang S; Vaz R; Sahlen P; Wahlgren C-F; Nordenskjold M; Tapia-Paez I; Bradley M
Preprint: BIORXIV. 2020
Rare variants in dynein heavy chain genes in two individuals withsitus inversusand developmental dyslexia
Bieder A; Einarsdottir E; Matsson H; Nilsson H; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Páez I
Editorial comment: ACTA DERMATO-VENEREOLOGICA. 2019;99(1):101-102
Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis
Asad S; Tapia-Paez I; Montes AM; Wahlgren C-F; Bilcha KD; Nordenskjold M; Bradley M
Book chapter: CILIA. 2018;p. 1-35
Cilia in Brain Development and Disease
Lauter G; Swoboda P; Tapia-Páez I
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2018;179(1):E33
Studies of keratinocyte-specific regulatory interactions by three-dimensional mapping with a focus on atopic dermatitis
Tapia-Paez I; Asad S; Taylan F; Spalinskas R; Anandashankar A; Nordenskjold M; Wahlgren CF; Sahlen P; Bradley M
Conference publication: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE. 2012;30(8):675-676
The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins
Tammimies K; Vitezic M; Matsson H; Le Guyader S; Burglin TR; Ohman T; Stromblad S; Daub CO; Nyman TA; Kere J; Tapia-Paez I
Conference publication: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE. 2010;28(8):696
From dyslexia candidate genes to molecular pathways in brain development
Tammimies K; Tapia-Paez I; Massinen S; Hokkanen ME; Matsson H; Peyrard-Janvid M
Conference publication: EUROPEAN JOURNAL OF PEDIATRICS. 2008;167(3):365
Exercise-induced hyperinsulinism:: A new disorder caused by promoter-activating mutations in the SLC16A1 gene
Meissner T; Otonkoski T; Jiao H; Kaminen-Ahola N; Tapia-Paez I; Ullah MS; Parton LE; Schuit F; Quintens R; Sipilae I; Halestrap AP; Rutter GA; Kere J; Mayatepek E
Thesis / dissertation: 2003
Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH
Tapia Paez, Isabel

Employments

Senior Research Specialist, Department of Medicine, Karolinska Institutet, 2022-

Degrees and Education

Docent, Karolinska Institutet, 2024
Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2003

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