Associated Papers
Generation and characterisation of seven induced pluripotent stem cell lines from two patients with Parkinson's disease carrying the pathological variant c.1087G>T of the LGR4 gene.
Podvysotskaya VS et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.
Gervas P et al.
Molecular Biology Reports, 2024
A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.
Gervas P et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).
Gervas P et al.
Bulletin of Experimental Biology and Medicine, 2024
LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.
Zhang N et al.
Endocrine Reviews, 2023
Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.
Lucas C et al.
The Journal of Clinical Investigation, 2023
36538378 (PubMed )
Supplement: jci-133-164915-s007.pdf
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Rossetti R et al.
Frontiers in Endocrinology, 2021
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.
Mancini A et al.
Jci Insight, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
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