DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

(2017) Séverine Marcos et al.   HUMAN MOLECULAR GENETICS

Biallelic mutations in human DCC cause developmental split-brain syndrome

(2017) Saumya S Jamuar et al.   NATURE GENETICS

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

(2017) Ashley P L Marsh et al.   NATURE GENETICS

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

(2016) Filippo Casoni et al.   DEVELOPMENT

Normal Molecular Specification and Neurodegenerative Disease-Like Death of Spinal Neurons Lacking the SNARE-Associated Synaptic Protein Munc18-1

(2016) C. Law et al.   JOURNAL OF 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

Signaling mechanism of the netrin-1 receptor DCC in axon guidance

(2015) L. Finci et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Functional Consequences ofAXLSequence Variants in Hypogonadotropic Hypogonadism

(2014) S. Salian-Mehta et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Netrin-1 promotes adipose tissue macrophage retention and insulin resistance in obesity

(2014) Bhama Ramkhelawon et al.   NATURE MEDICINE

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

(2014) A. Meneret et al.   NEUROLOGY

Defining the Ligand Specificity of the Deleted in Colorectal Cancer (DCC) Receptor

(2014) Patrick C. G. Haddick et al.   PLoS One

Functionally compromisedCHD7alleles in patients with isolated GnRH deficiency

(2014) Ravikumar Balasubramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structures of netrin-1 bound to two receptors provide insight into its axon guidance mechanism

(2014) K. Xu et al.   SCIENCE

NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis

(2014) Justine Bouilly et al.   Journal of Molecular Cell Biology

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways

(2013) Domenico Vladimiro Libri et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Deep Resequencing Unveils Genetic Architecture ofADIPOQand Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation

(2012) Liling L. Warren et al.   DIABETES

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

An ancient founder mutation in PROKR2 impairs human reproduction

(2012) Magdalena Avbelj Stefanija et al.   HUMAN MOLECULAR GENETICS

N-terminal horseshoe conformation of DCC is functionally required for axon guidance and might be shared by other neural receptors

(2012) Qiang Chen et al.   JOURNAL OF CELL SCIENCE

Differential regulation of myosin X movements by its cargos, DCC and neogenin

(2012) Y. Liu et al.   JOURNAL OF CELL SCIENCE

Netrin/DCC Signaling Guides Olfactory Sensory Axons to Their Correct Location in the Olfactory Bulb

(2012) V. Lakhina et al.   JOURNAL OF NEUROSCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

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

(2012) Naresh Kumar Hanchate et al.   PLoS Genetics

Life at the Leading Edge

(2011) Anne J. Ridley   CELL

Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility

(2011) Andrea Messina et al.   HUMAN MOLECULAR GENETICS

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

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

Neural Crest and Ectodermal Cells Intermix in the Nasal Placode to Give Rise to GnRH-1 Neurons, Sensory Neurons, and Olfactory Ensheathing Cells

(2011) P. E. Forni et al.   JOURNAL OF NEUROSCIENCE

Draxin Inhibits Axonal Outgrowth through the Netrin Receptor DCC

(2011) G. Ahmed 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

A novel DCC mutation and genetic heterogeneity in congenital mirror movements

(2011) C. Depienne et al.   NEUROLOGY

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations

(2011) K Song et al.   PHARMACOGENOMICS JOURNAL

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gonadotropin-releasing hormone (GnRH) neuron migration: Initiation, maintenance and cessation as critical steps to ensure normal reproductive function

(2010) Margaret E. Wierman et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Composition of the migratory mass during development of the olfactory nerve

(2010) Alexandra M. Miller et al.   JOURNAL OF COMPARATIVE NEUROLOGY

From Nose to Brain: Development of Gonadotrophin-Releasing Hormone -1 Neurones

(2010) S. Wray   JOURNAL OF NEUROENDOCRINOLOGY

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in DCC Cause Congenital Mirror Movements

(2010) M. Srour et al.   SCIENCE

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

GNRH1mutations in patients with idiopathic hypogonadotropic hypogonadism

(2009) Yee-Ming Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Netrin-1- 3 1 integrin interactions regulate the migration of interneurons through the cortical marginal zone

(2009) A. Stanco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DSCAM functions as a netrin receptor in commissural axon pathfinding

(2009) Guofa Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Filopodia: molecular architecture and cellular functions

(2008) Pieta K. Mattila et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY