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 …

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
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 …

Sequencing and characterizing short tandem repeats in the human genome

HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
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 …

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 …

Mutation of FOXL2 in Granulosa-Cell Tumors of the Ovary

SP Shah, M Köbel, J Senz, RD Morin… - … England Journal of …, 2009 - Mass Medical Soc
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 …

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 …

Forkhead transcription factors: key players in development and metabolism

P Carlsson, M Mahlapuu - Developmental biology, 2002 - Elsevier
Transcription factors are modular proteins where distinct functions, such as DNA binding,
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 …

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 …

[HTML][HTML] Genes involved in human premature ovarian failure

L Persani, R Rossetti… - Journal of molecular …, 2010 - endocrinology-journals.org
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 …