Associated Papers
Genetic Association of RXFP2 T222P Variant With Cryptorchidism: A Meta-Analytic Study.
Kabziński J et al.
Andrology, 2026
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
Syryn H et al.
Human Reproduction (oxford, England), 2024
Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.
Ruan L et al.
Journal of Assisted Reproduction and Genetics, 2024
A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.
Yang HW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
The evolving role of whole-exome sequencing in the management of disorders of sex development.
Tenenbaum-Rakover Y et al.
Endocrine Connections, 2021
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R et al.
Human Molecular Genetics, 2020
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.
Ayers K et al.
Journal of Medical Genetics, 2019
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
Brauner R et al.
Bmc Pediatrics, 2016
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Jóri B et al.
Oncotarget, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent.
Mamoulakis C et al.
Andrologia, 2014
A missense mutation in DUSP6 is associated with Class III malocclusion.
Nikopensius T et al.
Journal of Dental Research, 2013
Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.
Ars E et al.
International Journal of Andrology, 2011
Uterine cysts in female mice deficient for caveolin-1 and insulin-like 3 receptor RXFP2.
Li Z et al.
Endocrinology, 2011
Testicular descent: INSL3, testosterone, genes and the intrauterine milieu.
Bay K et al.
Nature Reviews. Urology, 2011
Clinical, biological and genetic analysis of anorchia in 26 boys.
Brauner R et al.
Plos One, 2011
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism.
Harris RM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Morphogenetic targets and genetics of undescended testis.
Massart F et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
INSL3/RXFP2 signaling in testicular descent.
Feng S et al.
Annals of the New York Academy of Sciences, 2009
Mutations in INSL3 and RXFP2 genes in cryptorchid boys.
Ferlin A et al.
Annals of the New York Academy of Sciences, 2009
New roles for INSL3 in adults.
Ferlin A et al.
Annals of the New York Academy of Sciences, 2009
INSL3 plays a role in the balance between bone formation and resorption.
Pepe A et al.
Annals of the New York Academy of Sciences, 2009
The leucine-rich repeat structure.
Bella J et al.
Cellular and Molecular Life Sciences : Cmls, 2008
Mutations in the insulin-like factor 3 receptor are associated with osteoporosis.
Ferlin A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism.
Nuti F et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population.
El Houate B et al.
Hormone Research, 2008
Hormonal and genetic control of testicular descent.
Ferlin A et al.
Reproductive Biomedicine Online, 2007
Developmental expression and gene regulation of insulin-like 3 receptor RXFP2 in mouse male reproductive organs.
Feng S et al.
Biology of Reproduction, 2007
Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets.
Insel PA et al.
Biochimica Et Biophysica Acta, 2007
Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility.
Galan JJ et al.
Human Reproduction (oxford, England), 2007
T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane.
Bogatcheva NV et al.
American Journal of Physiology. Endocrinology and Metabolism, 2007
Genetic causes of male infertility.
Ferlin A et al.
Reproductive Toxicology (elmsford, N.y.), 2006
Cryptorchidism: an indicator of testicular dysgenesis?
Kaleva M et al.
Cell and Tissue Research, 2005
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia.
Vinci G et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism.
Feng S et al.
Urology, 2004
GREAT/LGR8 is the only receptor for insulin-like 3 peptide.
Bogatcheva NV et al.
Molecular Endocrinology (baltimore, Md.), 2003
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
Ferlin A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Mutations of the GREAT gene cause cryptorchidism.
Gorlov IP et al.
Human Molecular Genetics, 2002