Can CNVs cause a KCNK9 imprinting syndrome?

被引:0
|
作者
Wojcik, Marta [1 ]
Badura-Stronka, Magdalena [1 ,2 ]
Wnuk-Klosinska, Aleksandra [1 ,2 ]
Simon, Dorota [3 ]
Jakubczak, Aleksandra [3 ]
Piechota, Michal [3 ]
Jamsheer, Aleksander [1 ,2 ]
机构
[1] Genet Clin, Diagnost Genesis, Poznan, Poland
[2] Poznan Univ Med Sci, Dept Med Genet, Poznan, Poland
[3] Lab Med Genet, Diagnost Genesis, Poznan, Poland
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP13.017
引用
收藏
页码:1110 / 1110
页数:1
相关论文
共 50 条
  • [1] Loss of imprinting of KCNK9 in breast cancer
    Skaar, David A.
    Seewaldt, Victoria L.
    Gould, Michael N.
    Jirtle, Randy L.
    CANCER RESEARCH, 2012, 72
  • [2] KCNK9 imprinting syndromefurther delineation of a possible treatable disorder
    Graham, John M., Jr.
    Zadeh, Neda
    Kelley, Melissa
    Tan, Ee Shien
    Liew, Wendy
    Tan, Victoria
    Deardorff, Matthew A.
    Wilson, Golder N.
    Sagi-Dain, Lena
    Shalev, Stavit A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (10) : 2632 - 2637
  • [3] Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
    Margot A. Cousin
    Emma L. Veale
    Nikita R. Dsouza
    Swarnendu Tripathi
    Robyn G. Holden
    Maria Arelin
    Geoffrey Beek
    Mir Reza Bekheirnia
    Jasmin Beygo
    Vikas Bhambhani
    Martin Bialer
    Stefania Bigoni
    Cyrus Boelman
    Jenny Carmichael
    Thomas Courtin
    Benjamin Cogne
    Ivana Dabaj
    Diane Doummar
    Laura Fazilleau
    Alessandra Ferlini
    Ralitza H. Gavrilova
    John M. Graham
    Tobias B. Haack
    Jane Juusola
    Sarina G. Kant
    Saima Kayani
    Boris Keren
    Petra Ketteler
    Chiara Klöckner
    Tamara T. Koopmann
    Teresa M. Kruisselbrink
    Alma Kuechler
    Laëtitia Lambert
    Xénia Latypova
    Robert Roger Lebel
    Magalie S. Leduc
    Emanuela Leonardi
    Andrea M. Lewis
    Wendy Liew
    Keren Machol
    Samir Mardini
    Kirsty McWalter
    Cyril Mignot
    Julie McLaughlin
    Alessandra Murgia
    Vinodh Narayanan
    Caroline Nava
    Sonja Neuser
    Mathilde Nizon
    Davide Ognibene
    Genome Medicine, 14
  • [4] Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
    Cousin, Margot A.
    Veale, Emma L.
    Dsouza, Nikita R.
    Tripathi, Swarnendu
    Holden, Robyn G.
    Arelin, Maria
    Beek, Geoffrey
    Bekheirnia, Mir Reza
    Beygo, Jasmin
    Bhambhani, Vikas
    Bialer, Martin
    Bigoni, Stefania
    Boelman, Cyrus
    Carmichael, Jenny
    Courtin, Thomas
    Cogne, Benjamin
    Dabaj, Ivana
    Doummar, Diane
    Fazilleau, Laura
    Ferlini, Alessandra
    Gavrilova, Ralitza H.
    Graham, John M., Jr.
    Haack, Tobias B.
    Juusola, Jane
    Kant, Sarina G.
    Kayani, Saima
    Keren, Boris
    Ketteler, Petra
    Kloeckner, Chiara
    Koopmann, Tamara T.
    Kruisselbrink, Teresa M.
    Kuechler, Alma
    Lambert, Laetitia
    Latypova, Xenia
    Lebel, Robert Roger
    Leduc, Magalie S.
    Leonardi, Emanuela
    Lewis, Andrea M.
    Liew, Wendy
    Machol, Keren
    Mardini, Samir
    McWalter, Kirsty
    Mignot, Cyril
    McLaughlin, Julie
    Murgia, Alessandra
    Narayanan, Vinodh
    Nava, Caroline
    Neuser, Sonja
    Nizon, Mathilde
    Ognibene, Davide
    GENOME MEDICINE, 2022, 14 (01)
  • [5] Epigenetic Dysregulation of KCNK9 Imprinting and Triple-Negative Breast Cancer
    Skaar, David A.
    Dietze, Eric C.
    Alva-Ornelas, Jackelyn A.
    Ann, David
    Schones, Dustin E.
    Hyslop, Terry
    Sistrunk, Christopher
    Zalles, Carola
    Ambrose, Adrian
    Kennedy, Kendall
    Idassi, Ombeni
    Miranda Carboni, Gustavo
    Gould, Michael N.
    Jirtle, Randy L.
    Seewaldt, Victoria L.
    CANCERS, 2021, 13 (23)
  • [6] Birk-Barel Intellectual Disability Dimorphism and KCNK9 Imprinting Syndrome: Craniofacial Surgery Considerations for an Exceedingly Rare Syndrome
    Villavisanis, Dillan F.
    Blum, Jessica D.
    Taylor, Jesse A.
    JOURNAL OF CRANIOFACIAL SURGERY, 2023, 34 (01) : E25 - E28
  • [7] Loss of imprinting of KCNK9 in African American women with triple-negative breast cancer
    Desal, Shraddha
    Skaar, David
    Dietze, Eric
    Ambrose, Adrian
    Jirtle, Randy
    Seewaldf, Victoria
    CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2014, 23 (11)
  • [8] Widening of the mutation spectrum in KCNK9 gene for the Birk Barel syndrome
    Krgovic, Danijela
    Opalic, Iva
    Rihar, Niha
    Gorenjak, Mario
    Herodez, Spela Stangler
    Dovc, Peter
    Vokac, Nadja Kokalj
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 173 - 173
  • [9] Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
    Sediva, Marie
    Lassuthova, Petra
    Zamecnik, Josef
    Sedlackova, Lucie
    Seeman, Pavel
    Haberlova, Jana
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (01)
  • [10] Altered expression of KCNK9 in colorectal cancers
    Kim, CJ
    Cho, YG
    Jeong, SW
    Kim, YS
    Kim, SY
    Nam, SW
    Lee, SH
    Yoo, NJ
    Lee, JY
    Park, WS
    APMIS, 2004, 112 (09) : 588 - 594