Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Cited by (377)

Items 301–377 of 377

  1. Caries
    John R. Shaffer, Mary L. Marazita · 2015 · Springer eBooks
  2. Hypohidrotic ectodermal dysplasia: a case report
    Muhammad Talaat Muhammad Nudar Albeik, Lava Abdullah, Muhammad M. Almatroud · 2023 · Annals of Medicine and Surgery
  3. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child
    Rabah Mohamed Shawky, Radwa Gamal · 2015 · Egyptian Journal of Medical Human Genetics
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    Jing Chen, Nian Liu, Qian Tao, Jie Wu, Jinyu Huang, Can Lü, Q. Li, Liangfang Shen, Xiang Chen, Cong Peng · 2025 · Advanced Science
  6. Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X‐linked hypohidrotic ectodermal dysplasia
    Jihyun Kim, Lim In-Seok, Eung‐Sang Choi, Hye‐In Lee, Beom‐Joon Kim, Myeung‐Nam Kim, Seung‐Tae Lee, Hee‐Jin Kim, Chang‐Seok Ki, Beom‐Joon Kim et al. · 2011 · International Journal of Dermatology
  7. De nouveaux gènes candidates pour les dysplasies ectodermiques anhidrotiques :TAB2,TRAF6etTAK1
    Aurore Morlon, Asma Smahi, Arnold Münnich · 2006 · médecine/sciences
  8. Fgf20 and Fgf4 may contribute to tooth agenesis in epilepsy-like disorder mice
    Nao Ogawa, Kunihiko Shimizu · 2016 · Pediatric Dental Journal
  9. Different degree of loss‐of‐function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity
    Sasagu Yagi, Shuichiro Yasuno, Osamu Ansai, Ryota Hayashi, Yutaka Shimomura · 2022 · The Journal of Dermatology
  10. Molecular Basis of Hereditary Hair Diseases
    Yutaka Shimomura · 2023 · The Keio Journal of Medicine
  11. A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
    Eyyüp Rencüzoğulları, Banu Guven Ezer · 2023 · Genes & Genetic Systems
  12. A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
    Yuan Zhuang, Ru Zhang, Miaomiao Li, Yaru Zou, Shui Jiang, Yanan Zhang, Shiguo Liu, Bo Yu · 2024 · Clinical Cosmetic and Investigational Dermatology
  13. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
    Stefan J. Rietmann, Noëlle Cochet‐Faivre, Hélène Dropsy, Vidhya Jagannathan, Lucie Chevallier, Tosso Leeb · 2024 · Genes
  14. Identification of costimulatory molecule signatures for evaluating prognostic risk in non-small cell lung cancer
    Yang Yan, Suqiong Lu, Guomin Gu · 2024 · Heliyon
  15. Ectodermal dysplasia: Skinny models on the catwalk
    Pascal H. G. Duijf, Hans van Bokhoven · 2005 · Drug Discovery Today Disease Models
  16. Language impairment with a microduplication in 1q42.3q43
    Antonio Benítez‐Burraco, Maite Fernández-Urquiza, Ma Salud Jiménez-Romero · 2020 · Clinical Linguistics & Phonetics
  17. Hereditary and Congenital Nail Disorders
    Smail Hadj-Rabia, LENNART JUHLIN, Robert Baran · 2012 · Blackwell Publishing Ltd eBooks
  18. A case of multiple oral cancers in the patient with hypohidrotic ectodermal dysplasia
    Takanori Kobayashi, Akihiko Iida, Kaya Narimatsu, Yutaka Shimomura · 2022 · Journal of Oral and Maxillofacial Surgery Medicine and Pathology
  19. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery
    Marija Tadin‐Strapps, Dorothy Warburton, J. C. Salas-Alanis, LD Lopez‐Cepeda, AM Christiano · 2004 · Clinical Genetics
  20. New Developments in the History of Hypohidrotic Ectodermal Dysplasia
    Olivier Gaide · 2003 · Dermatology
  21. Ectodysplasin in epithelial morphogenesis: from Tabby to TNFs
    Johanna Pispa · 2004 · Työväentutkimus Vuosikirja
  22. Ectodermal Dysplasias
    Peter H Itin · 2016 · Wiley eBooks
  23. Adaptor protein supersaturation drives innate immune signaling and cell fate
    Alejandro Rodríguez Gama, Tayla Miller, Shriram Venkatesan, Jeffrey J. Lange, Jianzheng Wu, Xiaoqing Song, William D. Bradford, Malcolm E. Cook, Jay R. Unruh, Randal Halfmann · 2026 · eLife
  24. Current and Novel Approaches for Genetic Skin Disorders
    Joey E. Lai‐Cheong, Amy S. Paller · 2013 · Springer eBooks
  25. NF-kappaB in skin immune homeostasis and cancer development
    Maria Helena Ulvmar · 2009 · Figshare
  26. Molecular background of three lethal fetal syndromes
    Heidi O. Nousiainen · 2011 · STM:n Hallinnonalan avoin julkaisuarkisto (Julkari)
  27. Molecular Regulation of Embryonic Mammary Gland Development
    Maria Voutilainen · 2015 · Työväentutkimus Vuosikirja
  28. Avaliação do status das glândulas salivares parótida e submandibular na displasia ectodérmica hipoidrótica por meio da ultrassonografia
    Nelise Alexandre da Silva Lascane · 2010 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  29. IKK and Beta-Catenin in Breast Cancer
    Marissa Teo · 2002 · Defense Technical Information Center (DTIC)
  30. Role of Eda and Troy pathways in ectodermal organ development
    Marja Pummila · 2009 · Työväentutkimus Vuosikirja
  31. Genetics of Alopecia
    Shigeki Inui · 2012 · Wiley eBooks
  32. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
    Naveed Wasif · 2011
  33. Clinical and molecular genetic studies in hereditary hair loss
    Maurice A. M. Van Steensel · 2005 · Research Publications (Maastricht University)
  34. Dysplasie ectodermique anhidrotique à transmission autosomique récessive dans un isolat Ewé au Togo. Rapport de 33 cas dans 23 familles
    Didier Koffi Gnamey, A.-K.-G Kpégba · 2003 · Archives de Pédiatrie
  35. Molecular Genetics of Human Hair Diseases
    Yutaka Shimomura, Abraham Zlotogorski, Angela M. Christiano · 2008 · Springer eBooks
  36. The Cytokine Odyssey 2001, a joint meeting of the Society of Leukocyte Biology and the International Cytokine Society
    Mireille Delhase, Carl F. Ware · 2002 · Expert Opinion on Therapeutic Targets
  37. Ectodermal organ development: Regulation by Notch and Eda pathways
    Tuija Mustonen · 2004 · Työväentutkimus Vuosikirja
  38. FINE-TUNING OF THE SIGNALLING NETWORK CONTROLLING MORPHOGENESIS AND STEM CELL DEVELOPMENT IN TEETH
    Marika Suomalainen · 2010
  39. HYPOHYDROTIC ECTODERMAL DYSPLASIA: A CLINICAL CASE REPORT
    Michele Callea, Michela Paglia, Emrullah Bahşi, Mariateresa Di Stazio, Bayram İnce, Giulia Fedele, Yasemin Yavuz, Luigi Paglia · 2014
  40. Tumor Necrosis Factors and Chemokines in Hair Development
    Sylvie Lefebvre · 2012 · Työväentutkimus Vuosikirja
  41. Canonical Wnt Signaling in Hair and Mammary Gland Patterning and Development
    Katja Maria Närhi · 2012 · Työväentutkimus Vuosikirja
  42. Genetic Mapping of Genes Causing Human Hereditary Alopecias and Ectodermal Dysplasias
    Rabia Habib · 2014 · HEC National Digital Library
  43. Genetic Studies of Human Hereditary Skin Disorders: Ectodermal Dysplasias and Alopecias
    Muhammad Tariq · 2009
  44. Displasias ectodérmicas
    Átila Fernando Visinoni · 2009 · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
  45. Genetic Diseases Affecting the Canonical Pathway of NF-κB Activation
    Gilles Courtois, Alessandra Pescatore, Jérémie Gautheron, Francesca Fusco, Matilde Valeria Ursini, Anna Senegas · 2015 · SpringerBriefs in biochemistry and molecular biology
  46. NF-_B and Associated Human Genetic Pathologies
    Alain Israël · 2006 · CRC Press eBooks
  47. Developmental Disorders of the Craniofacial Complex
    Martyn T. Cobourne, David P. C. Rice · 2016 · Wiley eBooks
  48. Formation de la condensation dermique chez l'embryon de poulet : études in vivo, in vitro et in silico
    Frédéric Michon · 2007 · HAL
  49. The role of mechanical force and the Eda pathway on morphogenesis of molar roots
    Haza Star · 2017 · Research Portal (King's College London)
  50. 日本皮膚科学会ガイドライン 無汗(低汗)性外胚葉形成不全症の診療手引き
    日本皮膚科学会「無汗性外胚葉形成不全症診療手引き」作成委員会, Takichi Munetsugu, 中里 良彦, 室田 浩之, 佐藤 貴浩, Masato Asahina, 下村 裕, 新関 寛徳, 藤本智子, 横関 博雄 · 2018 · 日本皮膚科学会雑誌
  51. Hereditary Hair Diseases (part 2)
    Yutaka Shimomura · 2018 · The Nishinihon Journal of Dermatology
  52. Surgical resection of an infectious pulmonary cyst in a patient with anhidrotic ectodermal dysplasia: A case report
    Raito Maruyama, Keigo Matsushima, Masashi Mikubo, Yoshio Matsui, Kazu Shiomi, Yukitoshi Satoh · 2020 · The Journal of the Japanese Association for Chest Surgery
  53. Language impairment with a microduplication in 1q42.3q43
    Antonio Benítez‐Burraco, Maite Fernández-Urquiza, Ma Salud Jiménez-Romero · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  54. Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych
    Alicja Monika Grabarczyk, Katarzyna Wertheim‐Tysarowska, Jerzy Bal · 2021 · Postępy Biochemii
  55. Bones and Teeth
    Peter Michael Vogel, John P. Sundberg, Cheryl L. Ackert‐Bicknell · 2021 · Wiley eBooks
  56. Hereditary and Congenital Nail Disorders
    Smail Hadj-Rabia, Rudolf Happle, Bianca Maria Piraccini, Robert Baran · 2018 · Wiley eBooks
  57. Ectodermal Dysplasias
    Cathal O’Connor, Yuka Asai, Alan David Irvine · 2019 · Wiley eBooks
  58. The Bioengineering of Dental Tissues
    Rena N. D’Souza, Songtao Shi · 2007 · CRC Press eBooks
  59. Signaling and Function of Death Receptors of the Tumor Necrosis Factor Receptor Superfamily
    Sune Skeldal, Elizabeth Jane Coulson · 2016 · Elsevier eBooks
  60. Ectodermal Dysplasias
    Peter H Itin · 2024 · Wiley eBooks
  61. Heritable Diseases with Examples Involving the Oro‐Facial Complex
    Fadi Titinchi, Johan Frank Opperman · 2024 · Wiley eBooks
  62. Ectodermal Dysplasias
    Dorothy Katherine Grange · 2024 · Elsevier eBooks
  63. Inherited Disorders of the Hair
    Eunice Y. Lee, Mazen Kurban, Angela M. Christiano · 2024 · Elsevier eBooks
  64. Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence
    Laura Guazzarotti · 2024 · Springer eBooks
  65. What Is and Isn’t an Ectodermal Dysplasia?
    Nicolai Peschel, Holm Schneider · 2024 · Springer eBooks
  66. Variant characterization in the intrinsically disordered human proteome
    Dalmira Hubrich, Jesús Alvarado-Valverde, Chop Yan Lee, Milena Djokic, Mareen Welzel, Kristina Hintz, Joelle Morgan Strom, Katja Luck · 2026 · Nature Structural & Molecular Biology
  67. Selected Hereditary Diseases
    Dawn H. Siegel, Kari Lyn Martin, Jennifer L. Hand · 2015 · Elsevier eBooks
  68. Functional characterization of ectodysplasin-1 and identification of novel candidate genes for ectodermal dysplasias and associated clinical features
    Bradley Lee Griggs · 2007 · TigerPrints (Clemson University)
  69. Molecular Mechanisms Underlying Tooth Morphogenesis and Cell Differentiation
    Xiuping Wang · 2004 · Työväentutkimus Vuosikirja
  70. Additional file 1 of Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
    Kablan, Ahmet, Elifcan Taşdelen · 2024 · Figshare
  71. Additional file 1 of EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes
    Yuyuan Yao, Ruihan Yang, Jian Zhu, Schlessinger, David, Jian Sima · 2024 · Figshare
  72. Additional file 2 of Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
    Kablan, Ahmet, Elifcan Taşdelen · 2024 · Figshare
  73. Multistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report
    Chen Huang, Yuwen Yan, Ahmed Lotf Algahefi, Barakat Al-Tayar, Bowen Zheng · 2026 · BMC Oral Health
  74. Exploration des récepteurs à dépendance dans les hémopathies malignes
    David Fahed · 2020 · theses.fr (ABES)
  75. Data from: Genetic architecture of skeletal evolution in European lake and stream stickleback
    Daniel Berner, Dario Moser, Marius Roesti, Heinz Buescher, Walter Salzburger · 2014 · Data Archiving and Networked Services (DANS)
  76. Adaptor Proteins in Death Receptor Signaling
    Nien‐Jung Chen, Wen‐Chen Yeh · 2005 · Humana Press eBooks
  77. NF-кB in Genetic Disorders
    Gilles Courtois, Alain Israël · 2003 · Springer eBooks