4.6 Article

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development

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 Developmental Biology

DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis

David Zarkower et al.

Summary: DMRT1 has been found to play a crucial role in testis differentiation in mice, with its control over sexual cell fate likely stemming from multiple properties, such as its functional collaboration with SOX9, function as a pioneer transcription factor, and highly unusual DNA binding interactions.

SEXUAL DEVELOPMENT (2022)

Article Biology

Twelve years of SAMtools and BCFtools

Petr Danecek et al.

Summary: SAMtools and BCFtools are widely used tools for processing high-throughput sequencing data, with a history of 12 years of continuous development and improvement. These packages have been utilized in various software projects and genomic pipelines and are freely available on GitHub.

GIGASCIENCE (2021)

Review Physiology

SEX DETERMINATION, GONADAL SEX DIFFERENTIATION, AND PLASTICITY IN VERTEBRATE SPECIES

Yoshitaka Nagahama et al.

Summary: A diverse array of sex determination mechanisms exist among vertebrates, with the major milestone being the discovery of the SRY gene in mammals. Significant progress has been made in understanding the molecular and cellular mechanisms involved in vertebrate sex determination and gonadal sex differentiation over the past three decades. The discovery of a large diversity of sex determination genes suggests the complexity and evolutionary implications of this biological event.

PHYSIOLOGICAL REVIEWS (2021)

Review Endocrinology & Metabolism

Update on the genetics of differences of sex development (DSD)

Dorien Baetens et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Biochemistry & Molecular Biology

Molecular Characterization of XX Maleness

Romina P. Grinspon et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Sexual Cell-Fate Reprogramming in the Ovary by DMRT1

Robin E. Lindeman et al.

CURRENT BIOLOGY (2015)

Article Biochemistry & Molecular Biology

An ancient protein-DNA interaction underlying metazoan sex determination

Mark W. Murphy et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)

Article Biochemistry & Molecular Biology

An ancient protein-DNA interaction underlying metazoan sex determination

Mark W. Murphy et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)

Article Genetics & Heredity

9p Partial Monosomy and Disorders of Sex Development: Review and Postulation of a Pathogenetic Mechanism

Shane C. Quinonez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Review Genetics & Heredity

Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity

Clinton K. Matson et al.

NATURE REVIEWS GENETICS (2012)

Article Multidisciplinary Sciences

DMRT1 prevents female reprogramming in the postnatal mammalian testis

Clinton K. Matson et al.

NATURE (2011)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biotechnology & Applied Microbiology

A new submicroscopic deletion that refines the 9p region for sex reversal

V Calvari et al.

GENOMICS (2000)