Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency
出版年份 2017 全文链接
标题
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency
作者
关键词
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出版物
HUMAN MOLECULAR GENETICS
Volume 27, Issue 2, Pages 338-350
出版商
Oxford University Press (OUP)
发表日期
2017-11-17
DOI
10.1093/hmg/ddx404
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty
- (2017) Maki Fukami et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- Snapin interacts with G-protein coupled receptor PKR2
- (2016) Jian Song et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era
- (2016) M. I. Stamou et al. ENDOCRINE REVIEWS
- Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
- (2016) Mary R Richards et al. JOURNAL OF MEDICAL GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The ExAC browser: displaying reference data information from over 60 000 exomes
- (2016) Konrad J. Karczewski et al. NUCLEIC ACIDS RESEARCH
- Quantifying prion disease penetrance using large population control cohorts
- (2016) Eric Vallabh Minikel et al. Science Translational Medicine
- Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients
- (2015) Wei-Jun Gu et al. EXPERIMENTAL BIOLOGY AND MEDICINE
- 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
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency
- (2015) Jin-Ho Choi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Identification of transmembrane domains that regulate spatial arrangements and activity of prokineticin receptor 2 dimers
- (2015) S. Sposini et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Actions of the Small Molecule Ligands SW106 and AH-3960 on the Type-1 Parathyroid Hormone Receptor
- (2015) Percy H. Carter et al. MOLECULAR ENDOCRINOLOGY
- The Pfam protein families database: towards a more sustainable future
- (2015) Robert D. Finn et al. NUCLEIC ACIDS RESEARCH
- Prevalence of Titin Truncating Variants in General Population
- (2015) Oyediran Akinrinade et al. PLoS One
- Mechanisms that underlie the internalization and extracellular signal regulated kinase 1/2 activation by PKR2 receptor
- (2014) Wenqing Yin et al. CELLULAR SIGNALLING
- Chaperoning G Protein-Coupled Receptors: From Cell Biology to Therapeutics
- (2014) Ya-Xiong Tao et al. ENDOCRINE REVIEWS
- Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations
- (2014) Oualid Sbai et al. FASEB JOURNAL
- Functional Rescue of Kallmann Syndrome-associated Prokineticin Receptor 2 (PKR2) Mutants Deficient in Trafficking
- (2014) Dan-Na Chen et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
- (2014) A. R. Majithia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A survey of tools for variant analysis of next-generation genome sequencing data
- (2013) S. Pabinger et al. BRIEFINGS IN BIOINFORMATICS
- Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients
- (2013) Julie Sarfati et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- 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
- The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions
- (2012) Michael J. Bamshad et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PROKR2 mutations in autosomal recessive Kallmann syndrome
- (2012) Johanna Tommiska et al. FERTILITY AND STERILITY
- An ancient founder mutation in PROKR2 impairs human reproduction
- (2012) Magdalena Avbelj Stefanija et al. HUMAN MOLECULAR GENETICS
- When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)
- (2012) Elena Gianetti et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function
- (2012) Ana Paula Abreu et al. MOLECULAR ENDOCRINOLOGY
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- NIH Image to ImageJ: 25 years of image analysis
- (2012) Caroline A Schneider et al. NATURE METHODS
- SNP Calling, Genotype Calling, and Sample Allele Frequency Estimation from New-Generation Sequencing Data
- (2012) Rasmus Nielsen et al. PLoS One
- SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data
- (2012) Maria Fischer et al. PLoS One
- A Luminescent Biosensor with Increased Dynamic Range for Intracellular cAMP
- (2011) Brock F. Binkowski et al. ACS Chemical Biology
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations
- (2011) Cecilia Martin et al. ENDOCRINE REVIEWS
- Bioinformatics for Human Genetics: Promises and Challenges
- (2011) Annika Lindblom et al. HUMAN MUTATION
- Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
- (2011) Stephanie Hicks et al. HUMAN MUTATION
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- Disease-causing Mutation in PKR2 Receptor Reveals a Critical Role of Positive Charges in the Second Intracellular Loop for G-protein Coupling and Receptor Trafficking
- (2011) Zhen Peng et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network
- (2011) Ravikumar Balasubramanian et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- The puzzles of the prokineticin 2 pathway in human reproduction
- (2011) Ravikumar Balasubramanian et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- Genotype and SNP calling from next-generation sequencing data
- (2011) Rasmus Nielsen et al. NATURE REVIEWS GENETICS
- Computational and statistical approaches to analyzing variants identified by exome sequencing
- (2011) Nathan O Stitziel et al. GENOME BIOLOGY
- Evidence that prokineticin receptor 2 exists as a dimer in vivo
- (2010) Sara Marsango et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Human GnRH Deficiency: A Unique Disease Model to Unravel the Ontogeny of GnRH Neurons
- (2010) Ravikumar Balasubramanian et al. NEUROENDOCRINOLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- 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
- Deciphering Genetic Disease in the Genomic Era: The Model of GnRH Deficiency
- (2010) G. P. Sykiotis et al. Science Translational Medicine
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
- (2009) Julie Sarfati et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- 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
- PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
- (2008) Carine Monnier et al. HUMAN MOLECULAR GENETICS
- Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: Case Report
- (2008) A. A. Sinisi et al. HUMAN REPRODUCTION
- Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and KAL1
- (2008) P. Canto et al. JOURNAL OF ANDROLOGY
- Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome
- (2008) Ana Paula Abreu et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
- (2008) Lindsay W. Cole et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- McKusick's Online Mendelian Inheritance in Man (OMIM(R))
- (2008) J. Amberger et al. NUCLEIC ACIDS RESEARCH
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