Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma

被引：0
|
作者：
不详
机构：
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2023年 / 189卷 / 03期
基金：
以色列科学基金会;
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：II / II
页数：1
相关论文
共 39 条
  • [31] Autosomal Dominant Prelingual Hearing Loss With Palmoplantar Keratoderma Syndrome: Variability in Clinical Expression From Mutations of R75W and R75Q in the GJB2 Gene
    Birkenhaeger, Ralf
    Lueblinghoff, Nicola
    Prera, Erick
    Schild, Christian
    Aschendorff, Antje
    Arndt, Susan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (07) : 1798 - 1802
  • [32] A New PCSK9 Gene Promoter Variant Affects Gene Expression and Causes Autosomal Dominant Hypercholesterolemia (vol 93, pg 3577, 2008)
    Blesa, Sebastian
    Vernia, Santiago
    Garcia-Garcia, Ana-Barbara
    Martinez-Hervas, Sergio
    Ivorra, Carmen
    Gonzalez-Albert, Veronica
    Francisco Ascaso, Juan
    Carlos Martin-Escudero, Juan
    Tomas Real, Jose
    Carmena, Rafael
    Casado, Marta
    Javier Chaves, Felipe
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (01): : 325 - 325
  • [33] The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree
    Gao, Xiaojie
    Li, Hua
    Zhao, Songhua
    Li, Xiabin
    Zhao, Jiao
    Long, Yang
    Zhang, Jun
    Liao, Yongmei
    Li, Shengbiao
    Guo, Kai
    Yi, Jingyan
    Chen, Shaokun
    Ma, Mingyi
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2022, 106 (01) : 37 - 44
  • [34] The Polymorphism of the ACE Gene Affects Left Ventricular Hypertrophy and Causes Disturbances in Left Ventricular Systolic/Diastolic Function in Patients with Autosomal Dominant Polycystic Kidney Disease
    Wanic-Kossowska, Maria
    Posnik, Bartlomiej
    Kobelski, Mikolaj
    Pawliczak, Elzbieta
    Pawlaczyk, Krzysztof
    Hoppe, Krzysztof
    Schwermer, Krzysztof
    Sikorska, Dorota
    SCIENTIFIC WORLD JOURNAL, 2014,
  • [35] A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation
    Dunstan-Harrison, Caitlin
    Morison, Ian M.
    Ledgerwood, Elizabeth C.
    PLATELETS, 2022, 33 (02) : 324 - 327
  • [36] The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes
    Cenarro, Ana
    Etxebarria, Aitor
    de Castro-Oros, Isabel
    Stef, Marianne
    Bea, Ana M.
    Palacios, Lourdes
    Mateo-Gallego, Rocio
    Benito-Vicente, Asier
    Ostolaza, Helena
    Tejedor, Teresa
    Martin, Cesar
    Civeira, Fernando
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (05): : 2113 - 2121
  • [37] The p.Leu167del Mutation in APOE Gene causes Autosomal Dominant Hypercholesterolemia by Down-Regulation of LDL Receptor Expression in Hepatocytes
    Cenarro, Ana
    Martin, Cesar
    Stef, Marianne
    de Castro-Ords, Isabel
    Etxebarria, Aitor
    Palacios, Lourdes
    Mateo-Gallego, Rocio
    Ostolaza, Helena
    Tejedor, Teresa
    Civeira, Fernando
    CIRCULATION, 2014, 130
  • [38] Haploinsufficiency for a skin-specific isoform of SMARCAD1 causes autosomal dominant adermatoglyphia and perturbs the expression of epidermal differentiation-associated genes
    Nousbeck, J.
    Sarig, O.
    Magal, L.
    Warshauer, E.
    Burger, B.
    Itin, P.
    Sprecher, E.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 : S72 - S72
  • [39] VARIANT CD45R EXPRESSION WITH AUTOSOMAL DOMINANT INHERITANCE AFFECTS BOTH HELPER INDUCER (CD4+) AND SUPPRESSOR CYTOTOXIC (CD8+) T-CELL POPULATIONS
    SCOTT, CS
    RICHARDS, SJ
    COLE, JC
    GOOI, HC
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1991, 86 (03): : 500 - 505
1234