4.8 Article

In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance

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。
Article Biochemistry & Molecular Biology

Centrosome defects cause microcephaly by activating the 53BP1-USP28-TP53 mitotic surveillance pathway

Thao P. Phan et al.

Summary: Depletion of centrosome proteins in neural progenitor cells (NPCs) prolongs mitosis and increases TP53-mediated apoptosis in the developing brain. Activation of the mitotic surveillance pathway by mitotic delays is proposed to be the mechanism behind microcephaly caused by mutations in centrosome genes. Loss of 53BP1 or USP28 can rescue cell death after delayed mitosis in NPCs, restoring NPC proliferation and brain size.

EMBO JOURNAL (2021)

Article Endocrinology & Metabolism

Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism

Feng Sun et al.

Summary: Mutant zebrafish with duox gene disruption displayed hypothyroid phenotypes, such as growth retardation, goiter, and infertility, which were rescued by thyroxine treatment. In addition, the mutants also exhibited extrathyroidal abnormalities that were also rescued by T4 treatment. The fertility of zebrafish was found to be dependent on thyroid hormone, with continuous T4 treatment required for over 2 weeks for fertility to be achieved.

ENDOCRINOLOGY (2021)

Article Genetics & Heredity

Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

Rui-Meng Yang et al.

Summary: This study identified four pathogenic GBP1 variants that caused defective thyroid primordium morphogenesis and hypothyroidism in zebrafish embryos. Furthermore, it was found that GBP1 promoted beta-catenin translocation into the cytosol and suppressed the formation of cellular adhesion complexes, leading to defects in thyroid primordium growth.

GENETICS IN MEDICINE (2021)

Review Genetics & Heredity

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Patrizia Sarogni et al.

JOURNAL OF MEDICAL GENETICS (2020)

Article Endocrinology & Metabolism

Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal

Nan Wang et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Multidisciplinary Sciences

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee et al.

NATURE COMMUNICATIONS (2020)

Article Biotechnology & Applied Microbiology

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

Daehwan Kim et al.

NATURE BIOTECHNOLOGY (2019)

Review Genetics & Heredity

SMC5/6: Multifunctional Player in Replication

Jan J. Palecek

Review Cell Biology

Genetic syndromes of severe insulin resistance

A. Melvin et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2018)

Review Genetics & Heredity

The Smc5/6 Complex: New and Old Functions of the Enigmatic Long-Distance Relative

Luis Aragon

ANNUAL REVIEW OF GENETICS, VOL 52 (2018)

Review Cell Biology

Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions

Junko Oshima et al.

AGEING RESEARCH REVIEWS (2017)

Article Medicine, Research & Experimental

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben et al.

JOURNAL OF CLINICAL INVESTIGATION (2016)

Article Cell Biology

The Smc5/6 Complex Is an ATP-Dependent Intermolecular DNA Linker

Takaharu Kanno et al.

CELL REPORTS (2015)

Article Medicine, Research & Experimental

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Felicity Payne et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Biochemistry & Molecular Biology

Whole-organism screening for gluconeogenesis identifies activators of fasting metabolism

Philipp Gut et al.

NATURE CHEMICAL BIOLOGY (2013)

Review Biochemistry & Molecular Biology

The Smc complexes in DNA damage response

Nan Wu et al.

CELL AND BIOSCIENCE (2012)

Article Endocrinology & Metabolism

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

Isabel Huang-Doran et al.

DIABETES (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

Structural and Functional Insights into the Roles of the Mms21 Subunit of the Smc5/6 Complex

Xinyuan Duan et al.

MOLECULAR CELL (2009)

Review Biochemistry & Molecular Biology

Living with p53, dying of p53

Yael Aylon et al.

Article Multidisciplinary Sciences

tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors

S Berghmans et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome

KP Olive et al.

Article Multidisciplinary Sciences

Mitotic clonal expansion: A synchronous process required for adipogenesis

QQ Tang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)