NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

GnRH replacement rescues cognition in Down syndrome

(2022) Maria Manfredi-Lozano et al.   SCIENCE

GnRH neurons recruit astrocytes in infancy to facilitate network integration and sexual maturation

(2021) Giuliana Pellegrino et al.   NATURE NEUROSCIENCE

Neuropilin‐1 expression in GnRH neurons regulates prepubertal weight gain and sexual attraction

(2020) Charlotte Vanacker et al.   EMBO JOURNAL

Nitric oxide resets kisspeptin-excited GnRH neurons via PIP2 replenishment

(2020) Stephanie Constantin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Management of Congenital Hypogonadotropic Hypogonadism

(2019) Jacques Young et al.   ENDOCRINE REVIEWS

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance

(2019) Tristan J. Hayeck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nitric oxide signalling in the brain and its control of bodily functions

(2019) Konstantina Chachlaki et al.   BRITISH JOURNAL OF PHARMACOLOGY

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

(2019) Lorena Guimaraes Lima Amato et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

(2019) Andrea Messina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

(2018) Daniele Cassatella et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Estradiol and the Development of the Cerebral Cortex: An Unexpected Role?

(2018) Matthew C. S. Denley et al.   Frontiers in Neuroscience

Up-To-Date Review About Minipuberty and Overview on Hypothalamic-Pituitary-Gonadal Axis Activation in Fetal and Neonatal Life

(2018) Lucia Lanciotti et al.   Frontiers in Endocrinology

Puncta of neuronal nitric oxide synthase (nNOS) mediate NMDA-receptor signalling in the auditory midbrain

(2018) Bas MJ Olthof et al.   JOURNAL OF NEUROSCIENCE

Age-Related Hearing Loss

(2018) Michael R. Bowl et al.   Cold Spring Harbor Perspectives in Medicine

FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice

(2018) Marie M Devillers et al.   JOURNAL OF ENDOCRINOLOGY

Phenotyping of nNOS neurons in the postnatal and adult female mouse hypothalamus

(2017) Konstantina Chachlaki et al.   JOURNAL OF COMPARATIVE NEUROLOGY

NO-Sensitive Guanylate Cyclase Isoforms NO-GC1 and NO-GC2 Contribute to Noise-Induced Inner Hair Cell Synaptopathy

(2017) Dorit Möhrle et al.   MOLECULAR PHARMACOLOGY

The gentle art of saying NO: how nitric oxide gets things done in the hypothalamus

(2017) Konstantina Chachlaki et al.   Nature Reviews Endocrinology

A novel action of follicle-stimulating hormone in the ovary promotes estradiol production without inducing excessive follicular growth before puberty

(2017) Charlotte M. François et al.   Scientific Reports

PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation

(2016) Haiming Tang et al.   BIOINFORMATICS

Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty

(2016) Richard Quinton et al.   CLINICAL ENDOCRINOLOGY

Development of the neurons controlling fertility in humans: new insights from 3D imaging and transparent fetal brains

(2016) Filippo Casoni et al.   DEVELOPMENT

Management of hypoxemic respiratory failure and pulmonary hypertension in preterm infants

(2016) N Ambalavanan et al.   Journal of Perinatology

A microRNA switch regulates the rise in hypothalamic GnRH production before puberty

(2016) Andrea Messina et al.   NATURE NEUROSCIENCE

Postnatal development of GABAergic interneurons in the neocortical subplate of mice

(2016) G.-J. Qu et al.   NEUROSCIENCE

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Pharmacologic strategies in neonatal pulmonary hypertension other than nitric oxide

(2016) Satyan Lakshminrusimha et al.   SEMINARS IN PERINATOLOGY

Lack of neuronal nitric oxide synthase results in attention deficit hyperactivity disorder-like behaviors in mice.

(2015) Yudong Gao et al.   BEHAVIORAL NEUROSCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

Nitric Oxide-Mediated Modulation of Central Network Dynamics during Olfactory Perception

(2015) Satoshi Watanabe et al.   PLoS One

SHIELD: an integrative gene expression database for inner ear research

(2015) Jun Shen et al.   Database-The Journal of Biological Databases and Curation

Attentional Set-Shifting in Rodents: A Review of Behavioural Methods and Pharmacological Results

(2014) David Tait et al.   CURRENT PHARMACEUTICAL DESIGN

Activation of the Hypothalamic-Pituitary-Gonadal Axis in Infancy: Minipuberty

(2014) Tanja Kuiri-Hänninen et al.   Hormone Research in Paediatrics

Leptin-dependent neuronal NO signaling in the preoptic hypothalamus facilitates reproduction

(2014) Nicole Bellefontaine et al.   JOURNAL OF CLINICAL INVESTIGATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Hypophysiotropic Gonadotropin-Releasing Hormone Projections Are Exposed to Dense Plexuses of Kisspeptin, Neurokinin B and Substance P Immunoreactive Fibers in the Human: A Study on Tissues from Postmenopausal Women

(2014) Beáta Á. Borsay et al.   NEUROENDOCRINOLOGY

Colocalization of Cocaine- and Amphetamine-Regulated Transcript with Kisspeptin and Neurokinin B in the Human Infundibular Region

(2014) Katalin Skrapits et al.   PLoS One

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired emotional state, quality of life and cognitive functions in young hypogonadal men

(2013) L. Lašaitė et al.   ANDROLOGIA

Nitric oxide signaling in the brain: A new target for inhaled nitric oxide?

(2013) Christiane Charriaut-Marlangue et al.   ANNALS OF NEUROLOGY

Development of a Methodology for and Assessment of Pulsatile Luteinizing Hormone Secretion in Juvenile and Adult Male Mice

(2013) F. J. Steyn et al.   ENDOCRINOLOGY

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Soluble Guanylate Cyclase Generation of cGMP Regulates Migration of MGE Neurons

(2013) Shyamali Mandal et al.   JOURNAL OF NEUROSCIENCE

Preterm Birth and Mortality and Morbidity

(2013) Brian M. D’Onofrio et al.   JAMA Psychiatry

Improved genetically-encoded, FlincG-type fluorescent biosensors for neural cGMP imaging

(2013) Yogesh Bhargava et al.   Frontiers in Molecular Neuroscience

Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex

(2012) Kenneth Y. Kwan et al.   CELL

Increased frequency of anxiety, depression, quality of life and sexual life in young hypogonadotropic hypogonadal males and impacts of testosterone replacement therapy on these conditions

(2012) Umit Aydogan et al.   ENDOCRINE JOURNAL

Arcuate Kisspeptin/Neurokinin B/Dynorphin (KNDy) Neurons Mediate the Estrogen Suppression of Gonadotropin Secretion and Body Weight

(2012) Melinda A. Mittelman-Smith et al.   ENDOCRINOLOGY

Physical Inactivity is a Major Contributor to Ovariectomy-Induced Sarcopenia

(2012) H. Fonseca et al.   INTERNATIONAL JOURNAL OF SPORTS MEDICINE

Distinguishing Constitutional Delay of Growth and Puberty from Isolated Hypogonadotropic Hypogonadism: Critical Appraisal of Available Diagnostic Tests

(2012) Jennifer Harrington et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Kisspeptin-GPR54 Signaling in Mouse NO-Synthesizing Neurons Participates in the Hypothalamic Control of Ovulation

(2012) N. K. Hanchate et al.   JOURNAL OF NEUROSCIENCE

InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism

(2012) A. Kemal Topaloglu et al.   NEW ENGLAND JOURNAL OF MEDICINE

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

(2012) Naresh Kumar Hanchate et al.   PLoS Genetics

Translating cognition from animals to humans

(2011) J.F. Keeler et al.   BIOCHEMICAL PHARMACOLOGY

Nitric Oxide Signaling Modulates Synaptic Transmission during Early Postnatal Development

(2011) C. Cserep et al.   CEREBRAL CORTEX

Postnatal Developmental Changes in the Pituitary-Ovarian Axis in Preterm and Term Infant Girls

(2011) Tanja Kuiri-Hänninen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications

(2011) Hilana M. Lewkowitz-Shpuntoff et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Interplay among cGMP, cAMP, and Ca2+ in Living Olfactory Sensory Neurons In Vitro and In Vivo

(2011) M. Pietrobon et al.   JOURNAL OF NEUROSCIENCE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Nitric Oxide Is an Activity-Dependent Regulator of Target Neuron Intrinsic Excitability

(2011) Joern R. Steinert et al.   NEURON

Quantitative Co-Expression of Proteins at the Single Cell Level – Application to a Multimeric FRET Sensor

(2011) Joachim Goedhart et al.   PLoS One

Phosphorylation ofN-Methyl-d-Aspartic Acid Receptor-Associated Neuronal Nitric Oxide Synthase Depends on Estrogens and Modulates Hypothalamic Nitric Oxide Production during the Ovarian Cycle

(2010) Jyoti Parkash et al.   ENDOCRINOLOGY

Increased Activity of the Hypothalamic-Pituitary-Testicular Axis in Infancy Results in Increased Androgen Action in Premature Boys

(2010) Tanja Kuiri-Hänninen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

(2010) Luis Teixeira et al.   JOURNAL OF CLINICAL INVESTIGATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Neuroprotective Effect of Inhaled Nitric Oxide on Excitotoxic-Induced Brain Damage in Neonatal Rat

(2010) Julien Pansiot et al.   PLoS One

Exquisite sensitivity to subsecond, picomolar nitric oxide transients conferred on cells by guanylyl cyclase-coupled receptors

(2010) A. M. Batchelor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Influence of Functional Variant of Neuronal Nitric Oxide Synthase on Impulsive Behaviors in Humans

(2009) Andreas Reif et al.   ARCHIVES OF GENERAL PSYCHIATRY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Estradiol induces physical association of neuronal nitric oxide synthase with NMDA receptor and promotes nitric oxide formation via estrogen receptor activation in primary neuronal cultures

(2009) Xavier d’Anglemont de Tassigny et al.   JOURNAL OF NEUROCHEMISTRY

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

(2009) Jérôme Bouligand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nitric oxide regulates neurogenesis in adult olfactory epithelium in vitro

(2009) Lorena Sülz et al.   NITRIC OXIDE-BIOLOGY AND CHEMISTRY

Association of Preterm Birth With Long-term Survival, Reproduction, and Next-Generation Preterm Birth

(2008) Geeta K. Swamy   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Long-Term Medical and Social Consequences of Preterm Birth

(2008) Dag Moster et al.   NEW ENGLAND JOURNAL OF MEDICINE

Estradiol and the Developing Brain

(2008) MARGARET M. McCARTHY   PHYSIOLOGICAL REVIEWS

Activation of Neuronal Nitric Oxide Release Inhibits Spontaneous Firing in Adult Gonadotropin-Releasing Hormone Neurons: A Possible Local Synchronizing Signal

(2007) Jérôme Clasadonte et al.   ENDOCRINOLOGY