Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

(2018) Luigi Maione et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome

(2017) Qing-Hua Guo et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

(2017) Nitash Zwaveling-Soonawala et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fgf8 signaling for development of the midbrain and hindbrain

(2016) Hidekiyo Harada et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma

(2016) Ryusaku Matsumoto et al.   ENDOCRINE JOURNAL

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

(2016) Qing Fang et al.   ENDOCRINE REVIEWS

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

(2016) Frederic Castinetti et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9

(2016) Dominik Paquet et al.   NATURE

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

Pluripotent stem cells in disease modelling and drug discovery

(2016) Yishai Avior et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Functional anterior pituitary generated in self-organizing culture of human embryonic stem cells

(2016) Chikafumi Ozone et al.   Nature Communications

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

(2016) Yoshihito Ishida et al.   Cell Reports

Derivation of Diverse Hormone-Releasing Pituitary Cells from Human Pluripotent Stem Cells

(2016) Bastian Zimmer et al.   Stem Cell Reports

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

(2015) Francesca De Rienzo et al.   CLINICAL ENDOCRINOLOGY

Molecular codes defining rostrocaudal domains in the embryonic mouse hypothalamus

(2015) José L. Ferran et al.   Frontiers in Neuroanatomy

Deletion of OTX2 in neural ectoderm delays anterior pituitary development

(2014) Amanda H. Mortensen et al.   HUMAN MOLECULAR GENETICS

Specification of Functional Cranial Placode Derivatives from Human Pluripotent Stem Cells

(2013) Zehra Dincer et al.   Cell Reports

In vitro organogenesis in three dimensions: self-organising stem cells

(2012) Y. Sasai et al.   DEVELOPMENT

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve

(2012) Darya Gorbenko Del Blanco et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Gbx2 Directly Restricts Otx2 Expression to Forebrain and Midbrain, Competing with Class III POU Factors

(2012) F. Inoue et al.   MOLECULAR AND CELLULAR BIOLOGY

An Efficient Nonviral Method to Generate Integration-Free Human-Induced Pluripotent Stem Cells from Cord Blood and Peripheral Blood Cells

(2012) Keisuke Okita et al.   STEM CELLS

FGF signalling inhibits neural induction in human embryonic stem cells

(2011) Boris Greber et al.   EMBO JOURNAL

An Essential Role for RAX Homeoprotein and NOTCH-HES Signaling in Otx2 Expression in Embryonic Retinal Photoreceptor Cell Fate Determination

(2011) Y. Muranishi et al.   JOURNAL OF NEUROSCIENCE

Self-formation of functional adenohypophysis in three-dimensional culture

(2011) Hidetaka Suga et al.   NATURE

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

The role of homeodomain transcription factors in heritable pituitary disease

(2011) Kelly L. Prince et al.   Nature Reviews Endocrinology

Candidate genes for panhypopituitarism identified by gene expression profiling

(2011) Amanda H. Mortensen et al.   PHYSIOLOGICAL GENOMICS

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

(2010) KF Schilter et al.   CLINICAL GENETICS

Otx2 and Otx1 protect diencephalon and mesencephalon from caudalization into metencephalon during early brain regionalization

(2010) Yusuke Sakurai et al.   DEVELOPMENTAL BIOLOGY

Genetic forms of hypopituitarism and their manifestation in the neonatal period

(2009) Kyriaki S. Alatzoglou et al.   EARLY HUMAN DEVELOPMENT

Genetic Regulation of Pituitary Gland Development in Human and Mouse

(2009) Daniel Kelberman et al.   ENDOCRINE REVIEWS

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype

(2009) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

(2008) Daniel Diaczok et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using theIRBP,HESX1, andPOU1F1Promoters

(2008) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Minimization of exogenous signals in ES cell culture induces rostral hypothalamic differentiation

(2008) T. Wataya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice

(2007) Buffy S. Ellsworth et al.   DEVELOPMENTAL BIOLOGY