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。Knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs
Stefanie Kurtz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis
Mei Xue et al.
GENE (2019)
Mosaicism in CRISPR/Cas9-mediated genome editing
Maryam Mehravar et al.
DEVELOPMENTAL BIOLOGY (2019)
Sex reversal following deletion of a single distal enhancer of Sox9
Nitzan Gonen et al.
SCIENCE (2018)
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Brittany Croft et al.
NATURE COMMUNICATIONS (2018)
Wt1 directs the lineage specification of sertoli and granulosa cells by repressing Sf1 expression
Min Chen et al.
DEVELOPMENT (2017)
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment
Samim Ozen et al.
HORMONE RESEARCH IN PAEDIATRICS (2017)
In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures
Massilva Rahmoun et al.
NUCLEIC ACIDS RESEARCH (2017)
Aberrant activation of the human sex-determining gene in early embryonic development results in postnatal growth retardation and lethality in mice
Tatsuo Kido et al.
SCIENTIFIC REPORTS (2017)
46,XY ovotesticular disorders of sex development: A therapeutic challenge
Maria-Grazia Scarpa et al.
PEDIATRIC REPORTS (2017)
Electroporation of Cas9 protein/sgRNA into early pronuclear zygotes generates non-mosaic mutants in the mouse
Masakazu Hashimoto et al.
DEVELOPMENTAL BIOLOGY (2016)
Human Sex Determination at the Edge of Ambiguity INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR
Joseph D. Racca et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Female-to-male sex reversal in mice caused by transgenic overexpression of Dmrt1
Liang Zhao et al.
DEVELOPMENT (2015)
A piggyBac Transposon- and Gateway-enhanced System for Efficient BAC Transgenesis
Liang Zhao et al.
DEVELOPMENTAL DYNAMICS (2014)
Structure-function analysis of mouse Sry reveals dual essential roles of the C-terminal polyglutamine tract in sex determination
Liang Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
State of the art review in gonadal dysgenesis: challenges in diagnosis and management
Bonnie McCann-Crosby et al.
INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2014)
Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold
Yen-Shan Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Temporal Transcriptional Profiling of Somatic and Germ Cells Reveals Biased Lineage Priming of Sexual Fate in the Fetal Mouse Gonad
Samantha A. Jameson et al.
PLOS GENETICS (2012)
Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal FRUSTRATED INDUCED FIT IN A BENT PROTEIN-DNA COMPLEX
Nelson B. Phillips et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
FOXL2 versus SOX9: A lifelong battle of the sexes
Reiner A. Veitia
BIOESSAYS (2010)
A critical time window of Sry action in gonadal sex determination in mice
Ryuji Hiramatsu et al.
DEVELOPMENT (2009)
Epigenetic Gene Silencing by the SRY Protein Is Mediated by a KRAB-O Protein That Recruits the KAP1 Co-repressor Machinery
Hongzhuang Peng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis
Irene Sanchez-Moreno et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2009)
Full-length SRY protein is essential for DNA binding
I. Sanchez-Moreno et al.
MOLECULAR HUMAN REPRODUCTION (2008)
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
Ryohei Sekido et al.
NATURE (2008)
Goat SRY induces testis development in XX transgenic mice
Maelle Pannetier et al.
FEBS LETTERS (2006)
Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal
H Sim et al.
MOLECULAR ENDOCRINOLOGY (2005)
Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome
M Shahid et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Sry associates with the heterochromatin protein I complex by interacting with a KRAB domain protein
H Oh et al.
BIOLOGY OF REPRODUCTION (2005)
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation
M Shahid et al.
MOLECULAR HUMAN REPRODUCTION (2004)
Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes
NB Phillips et al.
BIOCHEMISTRY (2004)
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis
L Baldazzi et al.
CLINICAL GENETICS (2003)
Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
VR Harley et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
BLAT - The BLAST-like alignment tool
WJ Kent
GENOME RESEARCH (2002)
The C-terminal nuclear localization signal of the sex determining region Y (SRY) high mobility group domain mediates nuclear import through β1
JK Forwood et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Human sex reversal due to impaired nuclear localization of SRY - A clinical correlation
BR Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Structural basis for SRY-dependent 46-X,Y sex reversal: Modulation of DNA bending by a naturally occurring point mutation
EC Murphy et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)