المؤلفون: Akhtar Ali, Ajeet Kumar, Pawan K Dubey, Vivek Pandey, Ankur Singh

المصدر: Indian Journal of Dermatology, Vol 68, Iss 5, Pp 558-562 (2023)

مصطلحات موضوعية: 2q35 deletion, fibroblast cell culture, hemihypertrophy, hyperpigmentation, syndactyly, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=5;spage=558;epage=562;aulast=AliTest; https://doaj.org/toc/0019-5154Test; https://doaj.org/toc/1998-3611Test

الوصول الحر: https://doaj.org/article/f7cee782d5174e4fa7ad8467f5d3a2e2Test

المؤلفون: Baxter, J.S., Augustinsson, Annelie, Olsson, Håkan, Fletcher, O.

المصدر: American Journal of Human Genetics EpiHealth: Epidemiology for Health. 108(7):1190-1203

مصطلحات موضوعية: breast cancer risk, functional annotation, risk locus, deoxyribonuclease I, transcription factor, Article, binding affinity, breast cancer, cancer risk, chromosome 2q, chromosome chromosome 2q35, computer model, controlled study, CRISPR Cas system, enhancer region, estrogen receptor positive breast cancer, gene deletion, gene expression, gene function, gene locus, gene mapping, genetic analysis, human, human cell, IGFBP5 gene, in vitro study, molecular genetics, odds ratio, regulatory sequence, reporter gene, risk reduction, tumor suppressor gene, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/a678bca8-9c60-4f2d-b241-08fb6933bd00Test
http://dx.doi.org/10.1016/j.ajhg.2021.05.013Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/journal_contribution/Overview_of_primer_sequences_template_DNA_and_PCR_conditions_used_for_cloning_/16604198Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.s005Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/journal_contribution/Raw_Firefly_FL_and_Renilla_RL_values_of_the_performed_luciferase_assays_/16604195Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.s004Test

المؤلفون: Ghoussaini, Maya, French, Juliet D., Michailidou, Kyriaki, Nord, Silje, Beesley, Jonathan, Canisus, Sander, Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mandi Moradi, Lee, Jason S., Dennis, Joe, Bolla, Manjeet K., Wang, Qin, Dicks, Ed, Milne, Roger L., Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Benitez, Javier, Gonzalez-Neira, Anna, Alonso, Rosario, Pita, Guillermo, Neuhausen, Susan L., Anton-Culver, Hoda, Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Tessier, Daniel C., Vincent, Daniel, Nevanlinna, Heli, Khan, Sofia, kConFab AOCS, NBCS Collaborators

المساهمون: Department of Obstetrics and Gynecology, Clinicum

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, COMMON VARIANTS, RISK VARIANTS, LOCUS, TUMORS, FOXA1, 2Q35, 3111 Biomedicine, 3123 Gynaecology and paediatrics, 3122 Cancers

وصف الملف: application/pdf

العلاقة: Ghoussaini , M , French , J D , Michailidou , K , Nord , S , Beesley , J , Canisus , S , Hillman , K M , Kaufmann , S , Sivakumaran , H , Marjaneh , M M , Lee , J S , Dennis , J , Bolla , M K , Wang , Q , Dicks , E , Milne , R L , Hopper , J L , Southey , M C , Schmidt , M K , Broeks , A , Muir , K , Lophatananon , A , Fasching , P A , Beckmann , M W , Fletcher , O , Johnson , N , Sawyer , E J , Tomlinson , I , Burwinkel , B , Marme , F , Guenel , P , Truong , T , Bojesen , S E , Flyger , H , Benitez , J , Gonzalez-Neira , A , Alonso , R , Pita , G , Neuhausen , S L , Anton-Culver , H , Brenner , H , Arndt , V , Meindl , A , Schmutzler , R K , Brauch , H , Hamann , U , Tessier , D C , Vincent , D , Nevanlinna , H , Khan , S , kConFab AOCS & NBCS Collaborators 2016 , ' Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation ' , American Journal of Human Genetics , vol. 99 , no. 4 , pp. 903-911 . https://doi.org/10.1016/j.ajhg.2016.07.017Test; 84991598798; ccfcdfa1-06da-4fa0-95e4-dbfff3ab0490; http://hdl.handle.net/10138/168835Test; 000385333700010

الإتاحة: http://hdl.handle.net/10138/168835Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/figure/Results_of_luciferase_assays_for_pWNT10A-FL-EBF1_C_T_/16604189Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.s002Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/figure/Schematic_drawing_of_the_reporter_plasmid_construct_/16604216Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.g006Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/figure/WNT10A_and_EBF1_expression_in_human_scalp_hair_follicles_/16604210Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.g004Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/figure/Schematic_representation_of_the_study_design_and_workflow_/16604186Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.s001Test

المؤلفون: Lara M. Hochfeld (7886837), Marta Bertolini (564966), David Broadley (11419268), Natalia V. Botchkareva (11419271), Regina C. Betz (8066915), Susanne Schoch (6416636), Markus M. Nöthen (7305491), Stefanie Heilmann-Heimbach (3280875)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Physiology, Immunology, Developmental Biology, Cancer, Infectious Diseases, Plant Biology, luciferase reporter assays, haploreg database research, hair shaft formation, exact molecular mechanisms, div >< p, associated variants exert, underlying pathophysiological mechanism, regulatory annotations revealed, mpb risk locus, mpb risk allele, mpb lead variant, transcription factor ebf1, 2q35 risk locus, proves functional interaction, >/ ebf1 interaction, male pattern baldness, pattern baldness, functional mechanism, functional interaction, regulatory effect

العلاقة: https://figshare.com/articles/figure/Results_of_the_HaploReg_query_and_genomic_architecture_of_the_2q35_risk_locus_/16604201Test

الإتاحة: https://doi.org/10.1371/journal.pone.0256846.g001Test