Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review
出版年份 2023 全文链接
标题
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review
作者
关键词
-
出版物
Frontiers in Genetics
Volume 14, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2023-01-27
DOI
10.3389/fgene.2023.1081391
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Cryo-EM structure of SETD2/Set2 methyltransferase bound to a nucleosome containing oncohistone mutations
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- Neuronal SETD2 activity links microtubule methylation to an anxiety-like phenotype in mice
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- Remodeling the epigenome and (epi)cytoskeleton: a new paradigm for co-regulation by methylation
- (2020) Cheryl Walker et al. JOURNAL OF EXPERIMENTAL BIOLOGY
- An actin-WHAMM interaction linking SETD2 and autophagy
- (2020) Riyad N.H. Seervai et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A case of Luscan-Lumish syndrome: Possible involvement of enhanced GH signaling
- (2020) Kentaro Suda et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Overgrowth syndromes — clinical and molecular aspects and tumour risk
- (2019) Frédéric Brioude et al. Nature Reviews Endocrinology
- SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
- (2019) Pauline Marzin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome
- (2018) Maartje C. van Rij et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Common cancer-driver mutations and their association with abnormally methylated genes in lung adenocarcinoma from never-smokers
- (2018) Mathewos Tessema et al. LUNG CANCER
- Mutations in renal cell carcinoma
- (2018) Christopher D'Avella et al. UROLOGIC ONCOLOGY-SEMINARS AND ORIGINAL INVESTIGATIONS
- Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2
- (2017) Andrea B. Moffitt et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Dual Chromatin and Cytoskeletal Remodeling by SETD2
- (2016) In Young Park et al. CELL
- Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation
- (2016) Kathryn E. Hacker et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
- (2016) Camille Tlemsani et al. JOURNAL OF MEDICAL GENETICS
- Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia
- (2016) H Parker et al. LEUKEMIA
- SETD2histone modifier loss in aggressive GI stromal tumours
- (2015) Kie Kyon Huang et al. GUT
- Mutations inSETD2cause a novel overgrowth condition
- (2014) Armelle Luscan et al. JOURNAL OF MEDICAL GENETICS
- The NSD 1 and EZH 2 Overgrowth Genes, Similarities and Differences
- (2013) KATRINA TATTON-BROWN et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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