[HTML][HTML] SOX2 in development and cancer biology

D Novak, L Hüser, JJ Elton, V Umansky… - Seminars in cancer …, 2020 - Elsevier
The transcription factor SOX2 is essential for embryonic development and plays a crucial
role in maintaining the stemness of embryonic cells and various adult stem cell populations …

Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

[HTML][HTML] The sox family of transcription factors: versatile regulators of stem and progenitor cell fate

A Sarkar, K Hochedlinger - Cell stem cell, 2013 - cell.com
Sox family transcription factors are well-established regulators of cell fate decisions during
development. Accumulating evidence documents that they play additional roles in adult …

Sox proteins: regulators of cell fate specification and differentiation

Y Kamachi, H Kondoh - Development, 2013 - journals.biologists.com
Sox transcription factors play widespread roles during development; however, their versatile
funtions have a relatively simple basis: the binding of a Sox protein alone to DNA does not …

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

A systematic review and standardized clinical validity assessment of male infertility genes

MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

Advances in differential diagnosis and management of growth hormone deficiency in children

C Hage, HW Gan, A Ibba, G Patti, M Dattani… - Nature Reviews …, 2021 - nature.com
Growth hormone (GH) deficiency (GHD) in children is defined as impaired production of GH
by the pituitary gland that results in growth failure. This disease might be congenital or …

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

TJ Edwards, EH Sherr, AJ Barkovich, LJ Richards - Brain, 2014 - academic.oup.com
The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral
hemispheres, and thereby facilitating the integration of motor and sensory information from …

Hippocampal development and neural stem cell maintenance require Sox2-dependent regulation of Shh

R Favaro, M Valotta, ALM Ferri, E Latorre… - Nature …, 2009 - nature.com
Neural stem cells (NSCs) are controlled by diffusible factors. The transcription factor Sox2 is
expressed by NSCs and Sox2 mutations in humans cause defects in the brain and, in …

Genetic regulation of pituitary gland development in human and mouse

D Kelberman, K Rizzoti, R Lovell-Badge… - Endocrine …, 2009 - academic.oup.com
Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …