Publications:

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: TNFSF11: G278R

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Molecular Genetics & Genomic Medicine

Lertwilaiwittaya, Pongtawat P; Suktitipat, Bhoom B; Khongthon, Phongphak P; Pongsapich, Warut W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: RANKL: G278R

PubMed Link: 34056870

Variant Present in the following documents:

• MGG3-9-e1727.pdf

View BVdb publication page

---

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Molecular Genetics & Genomic Medicine

Lertwilaiwittaya, Pongtawat P; Suktitipat, Bhoom B; Khongthon, Phongphak P; Pongsapich, Warut W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: RANKL: G278R

PubMed Link: 34056870

Variant Present in the following documents:

• MGG3-9-e1727.pdf

View BVdb publication page

---

Novel Heterozygous HTRA1 Pathogenic Variant Found in a Chinese Family with Autosomal Dominant Cerebral Small Vessel Disease.

Annals Of Indian Academy Of Neurology

Wu, Changzhu C; Chen, Long L; Ke, Shaofa S

Publication Date: 2020

Variant appearance in text: RANKL: G278R

PubMed Link: 33688147

Variant Present in the following documents:

• AIAN-23-832.pdf

View BVdb publication page

---

Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.

Cell Proliferation

Yuan, Ying Y; Yang, Li L; Liu, Ting T; Zhang, Hong H; Lu, Qiong Q

Publication Date: 2019-11

Variant appearance in text: RANKL: G278R

PubMed Link: 31560140

Variant Present in the following documents:

• CPR-52-e12693.pdf

View BVdb publication page

---

Advanced Genetic Approaches in Discovery and Characterization of Genes Involved With Osteoporosis in Mouse and Human.

Frontiers In Genetics

Yuan, Jinbo J; Tickner, Jennifer J; Mullin, Benjamin H BH; Zhao, Jinmin J; Zeng, Zhiyu Z; Morahan, Grant G; Xu, Jiake J

Publication Date: 2019

Variant appearance in text: RANKL: G278R

PubMed Link: 31001327

Variant Present in the following documents:

• fgene-10-00288.pdf

View BVdb publication page

---

New Insights for RANKL as a Proinflammatory Modulator in Modeled Inflammatory Arthritis.

Frontiers In Immunology

Papadaki, Maria M; Rinotas, Vagelis V; Violitzi, Foteini F; Thireou, Trias T; Panayotou, George G; Samiotaki, Martina M; Douni, Eleni E

Publication Date: 2019

Variant appearance in text: RANKL: G278R

PubMed Link: 30804932

Variant Present in the following documents:

• Main text
• fimmu-10-00097.pdf

View BVdb publication page

---

In Silico Discovery of Plant-Origin Natural Product Inhibitors of Tumor Necrosis Factor (TNF) and Receptor Activator of NF-κB Ligand (RANKL).

Frontiers In Pharmacology

Melagraki, Georgia G; Ntougkos, Evangelos E; Papadopoulou, Dimitra D; Rinotas, Vagelis V; Leonis, Georgios G; Douni, Eleni E; Afantitis, Antreas A; Kollias, George G

Publication Date: 2018

Variant appearance in text: RANKL: G278R

PubMed Link: 30090063

Variant Present in the following documents:

• fphar-09-00800.pdf

View BVdb publication page

---

Cheminformatics-aided discovery of small-molecule Protein-Protein Interaction (PPI) dual inhibitors of Tumor Necrosis Factor (TNF) and Receptor Activator of NF-κB Ligand (RANKL).

Plos Computational Biology

Melagraki, Georgia G; Ntougkos, Evangelos E; Rinotas, Vagelis V; Papaneophytou, Christos C; Leonis, Georgios G; Mavromoustakos, Thomas T; Kontopidis, George G; Douni, Eleni E; Afantitis, Antreas A; Kollias, George G

Publication Date: 2017-04

Variant appearance in text: RANKL: G278R

PubMed Link: 28426652

Variant Present in the following documents:

• Main text
• pcbi.1005372.pdf

View BVdb publication page

---

Simultaneous inhibition of JAK and SYK kinases ameliorates chronic and destructive arthritis in mice.

Arthritis Research & Therapy

Llop-Guevara, Alba A; Porras, Mónica M; Cendón, Carla C; Di Ceglie, Irene I; Siracusa, Francesco F; Madarena, Federica F; Rinotas, Vagelis V; Gómez, Lluís L; van Lent, Peter L PL; Douni, Eleni E; Chang, Hyun Dong HD; Kamradt, Thomas T; Román, Juan J

Publication Date: 2015-12-10

Variant appearance in text: RANKL: G278R

PubMed Link: 26653844

Variant Present in the following documents:

• 13075_2015_Article_866.pdf

View BVdb publication page

---

A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.

Plos One

Ioakeimidis, Fotis F; Ott, Christine C; Kozjak-Pavlovic, Vera V; Violitzi, Foteini F; Rinotas, Vagelis V; Makrinou, Eleni E; Eliopoulos, Elias E; Fasseas, Costas C; Kollias, George G; Douni, Eleni E

Publication Date: 2014

Variant appearance in text: RANKL: G278R

PubMed Link: 25111180

Variant Present in the following documents:

• pone.0104237.pdf

View BVdb publication page

---

The role of TNF-α and TNF superfamily members in the pathogenesis of calcific aortic valvular disease.

Thescientificworldjournal

Galeone, Antonella A; Paparella, Domenico D; Colucci, Silvia S; Grano, Maria M; Brunetti, Giacomina G

Publication Date: 2013-11-06

Variant appearance in text: RANKL: G278R

PubMed Link: 24307884

Variant Present in the following documents:

• TSWJ2013-875363.pdf

View BVdb publication page

---

RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.

Clinical & Developmental Immunology

Lo Iacono, Nadia N; Pangrazio, Alessandra A; Abinun, Mario M; Bredius, Robbert R; Zecca, Marco M; Blair, Harry C HC; Vezzoni, Paolo P; Villa, Anna A; Sobacchi, Cristina C

Publication Date: 2013

Variant appearance in text: RANKL: G278R

PubMed Link: 23762088

Variant Present in the following documents:

• Main text
• CDI2013-412768.pdf

View BVdb publication page

---