LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling

EAP1 regulation of GnRH promoter activity is important for human pubertal timing

(2019) Alessandra Mancini et al.   HUMAN MOLECULAR GENETICS

Delayed Puberty – Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries

(2019) Sasha R Howard et al.   ENDOCRINE REVIEWS

HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes

(2018) Sasha R Howard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

(2018) Tilman Jobst-Schwan et al.   PLoS One

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

(2017) Marco Bonomi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

(2017) Sasha R Howard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

(2017) Felix R Day et al.   NATURE GENETICS

Adult Consequences of Self-Limited Delayed Puberty

(2017) Jia Zhu et al.   PEDIATRICS

IGSF10mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

(2016) Sasha R Howard et al.   EMBO Molecular Medicine

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

(2016) Andrea Messina et al.   NATURE NEUROSCIENCE

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Control of Wnt Receptor Turnover by R-spondin-ZNRF3/RNF43 Signaling Module and Its Dysregulation in Cancer

(2016) Huai-Xiang Hao et al.   Cancers

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome

(2015) Anna Cariboni et al.   JOURNAL OF CLINICAL INVESTIGATION

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study

(2015) Felix R Day et al.   Scientific Reports

RSPO–LGR4 functions via IQGAP1 to potentiate Wnt signaling

(2014) Kendra S. Carmon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Analysis of LGR4 Receptor Distribution in Human and Mouse Tissues

(2013) Jing Yi et al.   PLoS One

Lineage tracing with Axin2 reveals distinct developmental and adult populations of Wnt/ -catenin-responsive neural stem cells

(2013) A. N. Bowman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Delayed Puberty

(2012) Mark R. Palmert et al.   NEW ENGLAND JOURNAL OF MEDICINE

VEGF signalling controls GnRH neuron survival via NRP1 independently of KDR and blood vessels

(2011) A. Cariboni et al.   DEVELOPMENT

LGR4 and LGR5 are R-spondin receptors mediating Wnt/β-catenin and Wnt/PCP signalling

(2011) Andrei Glinka et al.   EMBO REPORTS

R-spondins function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/ -catenin signaling

(2011) K. S. Carmon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of theKISS1Gene in Disorders of Puberty

(2010) L. G. Silveira et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mouse models to study the central regulation of puberty

(2010) William H. Colledge et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Localization of Sonic hedgehog secreting and receiving cells in the developing and adult rat adrenal cortex

(2010) Leonardo Guasti et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

(2010) Cathy E Elks et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The zebrafish as a model system for forebrain GnRH neuronal development

(2009) Eytan Abraham et al.   GENERAL AND COMPARATIVE ENDOCRINOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Wnt signaling in development and disease

(2009) Jennifer L. Freese et al.   NEUROBIOLOGY OF DISEASE

Early Development of Forebrain Gonadotrophin-Releasing Hormone (GnRH) Neurones and the Role of GnRH as an Autocrine Migration Factor

(2008) E. Abraham et al.   JOURNAL OF NEUROENDOCRINOLOGY

Gonadotropin-Releasing Hormone Neuron Requirements for Puberty, Ovulation, and Fertility

(2007) Allan E. Herbison et al.   ENDOCRINOLOGY

Patterns of Inheritance of Constitutional Delay of Growth and Puberty in Families of Adolescent Girls and Boys Referred to Specialist Pediatric Care

(2007) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM