4.6 Article

A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

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。
Review Hematology

Inherited thrombocytopenias: history, advances and perspectives

Alan T. Nurden et al.

HAEMATOLOGICA (2020)

Article Multidisciplinary Sciences

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro et al.

NATURE (2020)

Review Biochemistry & Molecular Biology

Cytochrome c: An extreme multifunctional protein with a key role in cell fate

Roberto Santucci et al.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2019)

Review Hematology

Thrombocytopenia and infections

Massimo Franchini et al.

EXPERT REVIEW OF HEMATOLOGY (2017)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Primary Health Care

Thrombocytopenia

Eun-Ju Lee et al.

PRIMARY CARE (2016)

Article Multidisciplinary Sciences

Increased dynamics in the 40-57 Ω-loop of the G41S variant of human cytochrome c promote its pro-apoptotic conformation

Andreas Ioannis Karsisiotis et al.

Scientific Reports (2016)

Article Biochemistry & Molecular Biology

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

Daniela De Rocco et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)

Article Nursing

Thrombocytopenia

Edythe M. (Lyn) Greenberg et al.

CRITICAL CARE NURSING CLINICS OF NORTH AMERICA (2013)

Article Chemistry, Multidisciplinary

His26 Protonation in Cytochrome c Triggers Microsecond β-Sheet Formation and Heme Exposure: Implications for Apoptosis

Gurusamy Balakrishnan et al.

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2012)

Article Chemistry, Multidisciplinary

The Proapoptotic G41S Mutation to Human Cytochrome c Alters the Heme Electronic Structure and Increases the Electron Self-Exchange Rate

Matthew D. Liptak et al.

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2011)

Review Biochemistry & Molecular Biology

Cytochrome c as an experimental model protein

Julie M. Stevens

METALLOMICS (2011)

Article Biochemistry & Molecular Biology

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

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Review Cell Biology

Cytochrome c:: functions beyond respiration

Yong-Ling P. Ow et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)

Review Cell Biology

Detoxifying function of cytochrorne c against oxygen toxicity

Lee Min et al.

MITOCHONDRION (2007)

Article Biophysics

Cytochrome c oxidase subunit IV is essential for assembly and respiratory function of the enzyme complex

Youfen Li et al.

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES (2006)

Article Biochemistry & Molecular Biology

Cytochrome c acts as a cardiolipin oxygenase required for release of proapoptotic factors

VE Kagan et al.

NATURE CHEMICAL BIOLOGY (2005)

Review Clinical Neurology

Mitochondriopathies

J Finsterer

EUROPEAN JOURNAL OF NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

Cytochrome c is a hydrogen peroxide scavenger in mitochondria

ZB Wang et al.

PROTEIN AND PEPTIDE LETTERS (2003)

Article Biochemistry & Molecular Biology

Effect of cytochrome c on the generation and elimination of O2•- and H2O2 in mitochondria

YG Zhao et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)