John C. Schimenti
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View article: Embryonic Stem Cell-Specific Responses to DNA Replication Stress
Embryonic Stem Cell-Specific Responses to DNA Replication Stress Open
Genome maintenance is of the utmost importance in stem cells, as mutations can be propagated and cause defects in derivative tissues. Many stem cell types display low mutation rates, with embryonic stem cells (ESCs) being a notable example…
View article: Combinatorial organoid mutagenesis screen reveals gene constellations driving malignant transformation, pathology and chemosensitivity in high-grade serous ovarian carcinoma
Combinatorial organoid mutagenesis screen reveals gene constellations driving malignant transformation, pathology and chemosensitivity in high-grade serous ovarian carcinoma Open
High-grade serous ovarian carcinoma (HGSC) is the sixth leading cause of cancer-related death among women. Many cases arise from the Fallopian tubal epithelium (TE), exhibit numerous mutations, and present heterogenous pathological feature…
View article: Aggressive Serous Carcinomas of the Female Reproductive Tract: Cancer-Prone Cell States and Genetic Drivers
Aggressive Serous Carcinomas of the Female Reproductive Tract: Cancer-Prone Cell States and Genetic Drivers Open
In 2025, gynecological cancers are projected to account for approximately 10% of cancer-related deaths in women. High-grade serous ovarian carcinoma (HGSC) and serous endometrial carcinoma (SEC) are the most lethal gynecological cancer sub…
View article: Author Correction: Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma
Author Correction: Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma Open
View article: Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma
Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma Open
View article: WITHDRAWN: High throughput CRISPR perturbation screens identify epigenetic regulators impacting primordial germ cell development
WITHDRAWN: High throughput CRISPR perturbation screens identify epigenetic regulators impacting primordial germ cell development Open
Withdrawal Statement The authors have withdrawn this manuscript due this manuscript merging with another preprint (BIORXIV/2024/580543). Therefore, the authors do not wish this work to be cited as reference for the project. If you have any…
View article: Scalable primordial germ cell-like-cell platform for functional genomics identifies epigenetic fertility modifiers
Scalable primordial germ cell-like-cell platform for functional genomics identifies epigenetic fertility modifiers Open
Primordial germ cells (PGCs) are the founder cells of the germline. The ability to generate PGC-like cells (PGCLCs) from pluripotent stem cells has advanced our knowledge of gametogenesis and holds promise for developing infertility treatm…
View article: Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma
Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma Open
The distal region of the uterine (Fallopian) tube is commonly associated with high-grade serous carcinoma (HGSC), the predominant and most aggressive form of ovarian or extra-uterine cancer. Specific cell states and lineage dynamics of the…
View article: Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model
Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model Open
View article: In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes Open
Infertility is a heterogeneous condition, with genetic causes thought to underlie a substantial fraction of cases. Genome sequencing is becoming increasingly important for genetic diagnosis of diseases including idiopathic infertility; how…
View article: Female infertility from oocyte maturation arrest: assembling the genetic puzzle
Female infertility from oocyte maturation arrest: assembling the genetic puzzle Open
Assisted reproduction procedures often encounter an issue called oocyte maturation arrest (OMA), which is manifested as failed IVF/ICSI attempts using oocytes from some infertile women. In this issue of EMBO Molecular Medicine , Wang et al…
View article: A novel mouse allele of the DNA/RNA helicase senataxin (<i>Setx<sup>spcar3</sup></i>) causing meiotic arrest of spermatocytes and male infertility
A novel mouse allele of the DNA/RNA helicase senataxin (<i>Setx<sup>spcar3</sup></i>) causing meiotic arrest of spermatocytes and male infertility Open
An unbiased screen for discovering novel genes for fertility identified the spcar3, spermatocyte arrest 3, mutant phenotype. The spcar3 mutation identified a new allele of the Setx gene, encoding senataxin, a DNA/RNA helicase that regulate…
View article: Additional file 1 of Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model
Additional file 1 of Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model Open
Supplementary Material 1
View article: Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome
Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome Open
View article: Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model
Integrative genome-scale analyses reveal post-transcriptional signatures of early human small intestinal development in a directed differentiation organoid model Open
MicroRNAs (miRNAs) are important post-transcriptional gene regulators in organ development. To explore candidate roles for miRNAs in prenatal SI lineage specification in humans, we used a multi-omic analysis strategy in a directed differen…
View article: Imaging optically thick tissues simply and reproducibly: a practical guide to Lightsheet Macroscopy
Imaging optically thick tissues simply and reproducibly: a practical guide to Lightsheet Macroscopy Open
Lightsheet microscopy offers an ideal method for imaging of large (mm-cm scale) biological tissues rendered transparent via optical clearing protocols. However the diversity of clearing technologies and tissue types, and how these are adap…
View article: Bone mass and adaptation to mechanical loading are sexually dimorphic in adult osteoblast-specific ERα knockout mice
Bone mass and adaptation to mechanical loading are sexually dimorphic in adult osteoblast-specific ERα knockout mice Open
View article: Sequencing Micronuclei Reveals the Landscape of Chromosomal Instability
Sequencing Micronuclei Reveals the Landscape of Chromosomal Instability Open
Genome instability (GIN) is a main contributing factor to congenital and somatic diseases, but its sporadic occurrence in individual cell cycles makes it difficult to study mechanistically. One profound manifestation of GIN is the formatio…
View article: <i>In vivo</i>versus<i>in silico</i>assessment of potentially pathogenic missense variants in human reproductive genes
<i>In vivo</i>versus<i>in silico</i>assessment of potentially pathogenic missense variants in human reproductive genes Open
Infertility is a heterogeneous condition, with genetic causes estimated to be involved in approximately half of the cases. High-throughput sequencing (HTS) is becoming an increasingly important tool for genetic diagnosis of diseases includ…
View article: Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging Open
View article: Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
View article: <i>MLH1/3</i>variants causing aneuploidy, pregnancy loss, and premature reproductive aging
<i>MLH1/3</i>variants causing aneuploidy, pregnancy loss, and premature reproductive aging Open
Most spontaneous pregnancy losses are a result of embryonic aneuploidy stemming from mis-segregation of chromosomes during meiosis. Proper disjunction of homologous chromosomes is dependent upon precise control of crossing-over, a process …
View article: Strategies to Identify Genetic Variants Causing Infertility
Strategies to Identify Genetic Variants Causing Infertility Open
View article: Additional file 8 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 8 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 8. Supplementary Table S7. List of primers.
View article: Additional file 3 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 3 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 3. Supplementary Table S2. Dseq of bulk RNA-seq.
View article: Additional file 5 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 5 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 5. Supplementary Table S4. Pool 2 off-targets.
View article: Additional file 7 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 7 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 7. Supplementary Table S6. pegRNA off-targets and CArG boxes.
View article: Additional file 6 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 6 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 6. Supplementary Table S5. sgRNA off-targets and CArG boxes.
View article: Additional file 2 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 2 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 2. Supplementary Table S1. CRISPR targets.
View article: Additional file 4 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
Additional file 4 of Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression Open
Additional file 4. Supplementary Table S3. Pool 1 off-targets.