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。Clinical aspects of multiple endocrine neoplasia type 1
Abdallah Al-Salameh et al.
NATURE REVIEWS ENDOCRINOLOGY (2021)
Parkin: A targetable linchpin in human malignancies
Ahmad Perwez et al.
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER (2021)
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort
Maria Paulina Castelo Rueda et al.
FRONTIERS IN NEUROLOGY (2021)
Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report
Elena Fomchenko et al.
JOURNAL OF NEUROSURGERY-PEDIATRICS (2020)
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors
Sara Akhavanfard et al.
NATURE COMMUNICATIONS (2020)
Parkin inhibits BAK and BAX apoptotic function by distinct mechanisms during mitophagy
Jonathan P. Bernardini et al.
EMBO JOURNAL (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Functions of autophagy in the tumor microenvironment and cancer metastasis
Erin E. Mowers et al.
FEBS JOURNAL (2018)
Two nonsense somatic mutations in MEN1 identified in sporadic insulinomas
Cheng Qi et al.
FEBS OPEN BIO (2018)
The future: genetics advances in MEN1 therapeutic approaches and management strategies
Sunita K. Agarwal
ENDOCRINE-RELATED CANCER (2017)
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma
Erin M. Parry et al.
JOURNAL OF THORACIC ONCOLOGY (2017)
Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening
D. Iacovazzo et al.
EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM (2017)
SIFT missense predictions for genomes
Robert Vaser et al.
NATURE PROTOCOLS (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas
Joshua D. Campbell et al.
NATURE GENETICS (2016)
A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer
Donghai Xiong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Recurrent gain-of-function USP8 mutations in Cushing's disease
Zeng-Yi Ma et al.
CELL RESEARCH (2015)
Parkin Regulates Mitosis and Genomic Stability through Cdc20/Cdh1
Seung Baek Lee et al.
MOLECULAR CELL (2015)
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China
Hongyan Li et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
Pan-cancer genetic analysis identifies PARK2 as a master regulator of G1/S cyclins
Yongxing Gong et al.
NATURE GENETICS (2014)
Parkin Sensitizes toward Apoptosis Induced by Mitochondrial Depolarization through Promoting Degradation of Mcl-1
Richard G. Carroll et al.
CELL REPORTS (2014)
Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity
Agne Kazlauskaite et al.
OPEN BIOLOGY (2014)
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis
Thomas Cuny et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2013)
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2)
Claudio Ruffmann et al.
ACTA NEUROPATHOLOGICA (2012)
Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma
Reika Iwakawa et al.
GENES CHROMOSOMES & CANCER (2012)
Parkin, a p53 target gene, mediates the role of p53 in glucose metabolism and the Warburg effect
Cen Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies
Selvaraju Veeriah et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Attenuation of proteolysis-mediated cyclin E regulation by alternatively spliced Parkin in human colorectal cancers
Kyoko Ikeuchi et al.
INTERNATIONAL JOURNAL OF CANCER (2009)
Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases
Jeanne M. M. Tan et al.
HUMAN MOLECULAR GENETICS (2008)
Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6
James A. Olzmann et al.
JOURNAL OF CELL BIOLOGY (2007)
Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis
Sosipatros A. Boikos et al.
HUMAN MOLECULAR GENETICS (2007)
Pituitary adenoma predisposition caused by germline mutations in the AIP gene
Outi Vierimaa et al.
SCIENCE (2006)
Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: Implications for Lewy body formation
KL Lim et al.
JOURNAL OF NEUROSCIENCE (2005)
RING finger 1 mutations in Parkin produce altered localization of the protein
MR Cookson et al.
HUMAN MOLECULAR GENETICS (2003)
How much phenotypic variation can be attributed to parkin genotype?
E Lohmann et al.
ANNALS OF NEUROLOGY (2003)
Loss of heterozygosity of the MEN1 gene in a large series of TSH-secreting pituitary adenomas
C Asteria et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2001)
Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours
L Bergman et al.
BRITISH JOURNAL OF CANCER (2000)
分享论文
