Associated Papers
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.
Siviero-Miachon AA et al.
Endocrine Research, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis.
Jeha GS et al.
The Journal of Pediatrics, 2006
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
Mutations in human gonadotropin and gonadotropin-receptor genes.
Huhtaniemi IT et al.
Endocrine, 2005
Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene.
Ignacak M et al.
Journal of Endocrinological Investigation, 2002
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes.
Latronico AC et al.
Clinical Endocrinology, 2000
Theoretical study on mutation-induced activation of the luteinizing hormone receptor.
Fanelli F
Journal of Molecular Biology, 2000
Luteinizing hormone receptor mutations in disorders of sexual development and cancer.
Wu SM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
Latronico AC et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.
Laue L et al.
Biochemical and Molecular Medicine, 1996
Luteinizing hormone receptor mutations and sex differentiation.
Themmen AP et al.
European Journal of Endocrinology, 1996
A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.
Yano K et al.
Biochemical and Biophysical Research Communications, 1996
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
Laue L et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995