Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

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 …

Mutations in human accelerated regions disrupt cognition and social behavior

RN Doan, BI Bae, B Cubelos, C Chang, AA Hossain… - Cell, 2016 - cell.com
Comparative analyses have identified genomic regions potentially involved in human
evolution but do not directly assess function. Human accelerated regions (HARs) represent …

What is trophoblast? A combination of criteria define human first-trimester trophoblast

CQE Lee, L Gardner, M Turco, N Zhao, MJ Murray… - Stem cell reports, 2016 - cell.com
Controversy surrounds reports describing the derivation of human trophoblast cells from
placentas and embryonic stem cells (ESC), partly due to the difficulty in identifying markers …

The genetic architecture of microphthalmia, anophthalmia and coloboma

KA Williamson, DR FitzPatrick - European journal of medical genetics, 2014 - Elsevier
Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent
a continuum of structural developmental eye defects. In severe bilateral cases …

Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Sox2+ stem cells contribute to all epithelial lineages of the tooth via Sfrp5+ progenitors

E Juuri, K Saito, L Ahtiainen, K Seidel, M Tummers… - Developmental cell, 2012 - cell.com
The continuously growing mouse incisor serves as a valuable model to study stem cell
regulation during organ renewal. Epithelial stem cells are localized in the proximal end of …

Intertwined signaling pathways governing tooth development: a give-and-take between canonical Wnt and Shh

F Hermans, L Hemeryck, I Lambrichts… - Frontiers in cell and …, 2021 - frontiersin.org
Teeth play essential roles in life. Their development relies on reciprocal interactions
between the ectoderm-derived dental epithelium and the underlying neural crest-originated …

Septo-optic dysplasia

EA Webb, MT Dattani - European Journal of Human Genetics, 2010 - nature.com
This review summarises the key clinical features of septo-optic dysplasia (SOD), the
significant inroads that progress in genetics has made into our understanding of the …

Complex architecture and regulated expression of the Sox2ot locus during vertebrate development

PP Amaral, C Neyt, SJ Wilkins, ME Askarian-Amiri… - Rna, 2009 - rnajournal.cshlp.org
The Sox2 gene is a key regulator of pluripotency embedded within an intron of a long
noncoding RNA (ncRNA), termed Sox2 overlapping transcript (Sox2ot), which is transcribed …