30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …
which are polymorphic by nature and become highly unstable in a length-dependent …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
Sequencing and characterizing short tandem repeats in the human genome
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
Testis development
JA Mäkelä, JJ Koskenniemi, HE Virtanen… - Endocrine …, 2019 - academic.oup.com
Production of sperm and androgens is the main function of the testis. This depends on
normal development of both testicular somatic cells and germ cells. A genetic program …
normal development of both testicular somatic cells and germ cells. A genetic program …
Mutation of FOXL2 in Granulosa-Cell Tumors of the Ovary
Background Granulosa-cell tumors (GCTs) are the most common type of malignant ovarian
sex cord–stromal tumor (SCST). The pathogenesis of these tumors is unknown. Moreover …
sex cord–stromal tumor (SCST). The pathogenesis of these tumors is unknown. Moreover …
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance
D Schmidt, CE Ovitt, K Anlag, S Fehsenfeld, L Gredsted… - 2004 - journals.biologists.com
Human Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) type I is an
autosomal dominant disorder associated with premature ovarian failure (POF) caused by …
autosomal dominant disorder associated with premature ovarian failure (POF) caused by …
Forkhead transcription factors: key players in development and metabolism
Transcription factors are modular proteins where distinct functions, such as DNA binding,
trans-activation or trans-repression, are often contained within separable domains. DNA …
trans-activation or trans-repression, are often contained within separable domains. DNA …
Premature ovarian failure
D Goswami, GS Conway - Human reproduction update, 2005 - academic.oup.com
Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1%
of women. In majority of cases the underlying cause is not identified. The known causes …
of women. In majority of cases the underlying cause is not identified. The known causes …
Long-range control of gene expression: emerging mechanisms and disruption in disease
DA Kleinjan, V Van Heyningen - The American Journal of Human Genetics, 2005 - cell.com
Transcriptional control is a major mechanism for regulating gene expression. The complex
machinery required to effect this control is still emerging from functional and evolutionary …
machinery required to effect this control is still emerging from functional and evolutionary …
[HTML][HTML] Genes involved in human premature ovarian failure
Premature ovarian failure (POF) is an ovarian defect characterized by the premature
depletion of ovarian follicles before the age of 40 years, representing one major cause of …
depletion of ovarian follicles before the age of 40 years, representing one major cause of …