Publications:

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Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Reproductive Medicine And Biology

Suzuki, Erina E; Miyado, Mami M; Kuroki, Yoko Y; Fukami, Maki M

Publication Date: 2023

Variant appearance in text: GNRHR: Y284C

PubMed Link: 37122876

Variant Present in the following documents:

• Main text
• RMB2-22-e12515.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GNRHR: 851A>G; Tyr284Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GNRHR: 851A>G; Tyr284Cys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

International Journal Of Molecular Sciences

Ulloa-Aguirre, Alfredo A; Zariñán, Teresa T; Jardón-Valadez, Eduardo E

Publication Date: 2021-11-15

Variant appearance in text: GNRHR: Y284C

PubMed Link: 34830210

Variant Present in the following documents:

• Main text
• ijms-22-12329.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GNRHR: 851A>G; Tyr284Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Autosomal single-gene disorders involved in human infertility.

Saudi Journal Of Biological Sciences

Jedidi, Ines I; Ouchari, Mouna M; Yin, Qinan Q

Publication Date: 2018-07

Variant appearance in text: GNRHR: Tyr284Cys

PubMed Link: 30108436

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GNRHR: Y284C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Fertility And Sterility

Beneduzzi, Daiane D; Trarbach, Ericka B EB; Min, Le L; Jorge, Alexander A L AA; Garmes, Heraldo M HM; Renk, Alessandra Covallero AC; Fichna, Marta M; Fichna, Piotr P; Arantes, Karina A KA; Costa, Elaine M F EM; Zhang, Anna A; Adeola, Oluwaseun O; Wen, Junping J; Carroll, Rona S RS; Mendonça, Berenice B BB; Kaiser, Ursula B UB; Latronico, Ana Claudia AC; Silveira, Letícia F G LF

Publication Date: 2014-09

Variant appearance in text: GNRHR: Y284C

PubMed Link: 25016926

Variant Present in the following documents:

• Main text

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Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.

Plos One

Tello, Javier A JA; Newton, Claire L CL; Bouligand, Jerome J; Guiochon-Mantel, Anne A; Millar, Robert P RP; Young, Jacques J

Publication Date: 2012

Variant appearance in text: GNRHR: Tyr284Cys

PubMed Link: 22679506

Variant Present in the following documents:

• Main text
• pone.0038456.pdf

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The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Fertility And Sterility

Quaynor, Samuel D SD; Kim, Hyung-Goo HG; Cappello, Elizabeth M EM; Williams, Tiera T; Chorich, Lynn P LP; Bick, David P DP; Sherins, Richard J RJ; Layman, Lawrence C LC

Publication Date: 2011-12

Variant appearance in text: GNRHR: 851A>G; Y284C

PubMed Link: 22035731

Variant Present in the following documents:

• Main text

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G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Molecular And Cellular Endocrinology

Noel, Sekoni D SD; Kaiser, Ursula B UB

Publication Date: 2011-10-22

Variant appearance in text: GNRHR: Tyr284Cys

PubMed Link: 21736917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.

Frontiers Of Hormone Research

Kim, Hyung-Goo HG; Pedersen-White, Jennifer J; Bhagavath, Balasubramanian B; Layman, Lawrence C LC

Publication Date: 2010

Variant appearance in text: GNRHR: Y284C

PubMed Link: 20389088

Variant Present in the following documents:

• Main text

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