Emanuele Pelosi
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View article: Spotlight on Proteases: Roles in Ovarian Health and Disease
Spotlight on Proteases: Roles in Ovarian Health and Disease Open
Proteases play crucial roles in ovarian folliculogenesis, regulating several processes from primordial follicle activation to ovulation and corpus luteum formation. This review synthesizes the current knowledge on the diverse functions of …
View article: Harnessing Microbiome, Bacterial Extracellular Vesicle, and Artificial Intelligence for Polycystic Ovary Syndrome Diagnosis and Management
Harnessing Microbiome, Bacterial Extracellular Vesicle, and Artificial Intelligence for Polycystic Ovary Syndrome Diagnosis and Management Open
Polycystic ovary syndrome (PCOS) affects 6–19% of reproductive-age women worldwide, yet diagnosis remains challenging due to heterogeneous presentations and symptoms overlapping with other endocrine disorders. Recent studies have shown tha…
View article: Müllerian anomalies and endometriosis: associations and phenotypic variations
Müllerian anomalies and endometriosis: associations and phenotypic variations Open
Müllerian anomalies are congenital conditions characterized by the incomplete development of the female reproductive tract. Women affected by Müllerian anomalies often display additional malformations of the renal, skeletal, and cardiovasc…
View article: 12554 Human Sex Determination: SRY Length Regulates Its Cellular Stability And Hence The Robustness Of Testis Differentiation
12554 Human Sex Determination: SRY Length Regulates Its Cellular Stability And Hence The Robustness Of Testis Differentiation Open
Disclosure: M.A. Weiss: None. The abundance of transcription factors (TFs) mediated by the rates of degradation are subjected to be a robust to an appropriate level. This regulation via the proteasome is largely controlled by the stability…
View article: Ovarian absence: a systematic literature review and case series report
Ovarian absence: a systematic literature review and case series report Open
Ovarian absence is an uncommon condition that most frequently presents unilaterally. Several etiologies for the condition have been proposed, including torsion, vascular accident, and embryological defect. A systematic review was conducted…
View article: Functional genomics analysis identifies loss of<i>HNF1B</i>function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome
Functional genomics analysis identifies loss of<i>HNF1B</i>function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome Open
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when a…
View article: Functional genomics analysis identifies impairment of <i>HNF1B</i> function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome
Functional genomics analysis identifies impairment of <i>HNF1B</i> function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome Open
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a typical 46,XX karyotype. This condition can occur as type I when isolated or as type I…
View article: Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency
Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency Open
EDITORIAL article Front. Genet., 09 March 2022Sec.Genetics of Common and Rare Diseases https://doi.org/10.3389/fgene.2022.839758
View article: Functional Analysis of Mmd2 and Related PAQR Genes During Sex Determination in Mice
Functional Analysis of Mmd2 and Related PAQR Genes During Sex Determination in Mice Open
Introduction: Sex determination in eutherian mammals is controlled by the Y-linked gene Sry, which drives the formation of testes in male embryos. Despite extensive study, the genetic steps linking Sry action and male sex determination rem…
View article: Supplementary Material for: Functional Analysis of <b><i>Mmd2</i></b> and Related PAQR Genes During Sex Determination in Mice
Supplementary Material for: Functional Analysis of <b><i>Mmd2</i></b> and Related PAQR Genes During Sex Determination in Mice Open
Introduction: Sex determination in eutherian mammals is controlled by the Y-linked gene Sry, which drives the formation of testes in male embryos. Despite extensive study, the genetic steps linking Sry action and male sex determination rem…
View article: Generation and mutational analysis of a transgenic mouse model of human <i>SRY</i>
Generation and mutational analysis of a transgenic mouse model of human <i>SRY</i> Open
SRY is the Y-chromosomal gene that determines male sex development in humans and most other mammals. After three decades of study, we still lack a detailed understanding of which domains of the SRY protein are required to engage the pathwa…
View article: The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors. Open
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder caused by Müllerian ducts dysgenesis affecting 1 in 5000 women with a typical 46,XX karyotype. The etiology of MRKH syndrome is complex and largely unexplained. Familial clusteri…
View article: Functional analysis of <i>Mmd2</i> and related <i>PAQR</i> genes during sex determination in mice
Functional analysis of <i>Mmd2</i> and related <i>PAQR</i> genes during sex determination in mice Open
Sex determination in eutherian mammals is controlled by the Y-linked gene Sry , which drives the formation of testes in male embryos. Despite extensive study, the genetic steps linking Sry action and male sex determination remain largely u…
View article: Generation and mutational analysis of a transgenic mouse model of human SRY
Generation and mutational analysis of a transgenic mouse model of human SRY Open
SRY is the Y-chromosomal gene that determines male sex development in humans and most other mammals. After three decades of study, we still lack a detailed understanding of which domains of the SRY protein are required to engage pathway of…
View article: Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches Open
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including the uterus, cervix, and upper vagina. It can occur in isol…
View article: Lhx8 ablation leads to massive autophagy of mouse oocytes associated with DNA damage†
Lhx8 ablation leads to massive autophagy of mouse oocytes associated with DNA damage† Open
Following proliferation of oogonia in mammals, great numbers of germ cells are discarded, primarily by apoptosis, while the remainder form primordial follicles (the ovarian reserve) that determine fertility and reproductive lifespan. More …