Publications:

---

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: TNFSF11: 596T>A; Met199Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 596T>A

PubMed Link: 34056870

Variant Present in the following documents:

• Main text
• 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: 596T>A

PubMed Link: 34056870

Variant Present in the following documents:

• Main text
• MGG3-9-e1727.pdf

View BVdb publication page

---

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: TNFSF11: M199K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: 596T>A

PubMed Link: 23762088

Variant Present in the following documents:

• Main text
• CDI2013-412768.pdf

View BVdb publication page

---

Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ta, Hai Minh HM; Nguyen, Giang Thi Tuyet GT; Jin, Hye Mi HM; Choi, Jongkeun J; Park, Hyejin H; Kim, Nacksung N; Hwang, Hye-Yeon HY; Kim, Kyeong Kyu KK

Publication Date: 2010-11-23

Variant appearance in text: RANKL: M199K

PubMed Link: 21059944

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: TNFSF11: Met199Lys

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations within the TNF-like core domain of RANKL impair osteoclast differentiation and activation.

Molecular Endocrinology (Baltimore, Md.)

Cheng, Taksum T; Pavlos, Nathan J NJ; Wang, Cathy C; Tan, Jamie We-Yin JW; Lin, Jian Ming JM; Cornish, Jillian J; Zheng, Ming-Hao MH; Xu, Jiake J

Publication Date: 2009-01

Variant appearance in text: RANKL: Met199Lys

PubMed Link: 19008464

Variant Present in the following documents:

• Main text

View BVdb publication page

---