Publications:

---

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

Journal Of Obesity

Manju, Sudharmadevi K SK; Anilkumar, Thottathil R TR; Vysakh, G G; Leena, Balakumaran K BK; Lekshminarayan, Vijayalekshmi V; Kumar, Pradeep G PG; Shenoy, Trivikrama K TK

Publication Date: 2022

Variant appearance in text: rs1800564

PubMed Link: 36619235

Variant Present in the following documents:

• JOBE2022-1040650.pdf

View BVdb publication page

---

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Plos One

Rajcsanyi, Luisa Sophie LS; Zheng, Yiran Y; Fischer-Posovszky, Pamela P; Wabitsch, Martin M; Hebebrand, Johannes J; Hinney, Anke A

Publication Date: 2022

Variant appearance in text: LEP: Val110Met

PubMed Link: 36121795

Variant Present in the following documents:

• Main text
• pone.0266642.s002.pdf
• pone.0266642.pdf
• pone.0266642.s003.pdf
• pone.0266642.s006.pdf
• pone.0266642.s001.xlsx, sheet 1

View BVdb publication page

---

Leptin Signaling in Obesity and Colorectal Cancer.

International Journal Of Molecular Sciences

Socol, Claudia Terezia CT; Chira, Alexandra A; Martinez-Sanchez, Maria Antonia MA; Nuñez-Sanchez, Maria Angeles MA; Maerescu, Cristina Maria CM; Mierlita, Daniel D; Rusu, Alexandru Vasile AV; Ruiz-Alcaraz, Antonio Jose AJ; Trif, Monica M; Ramos-Molina, Bruno B

Publication Date: 2022-04-24

Variant appearance in text: LEP: V110M

PubMed Link: 35563103

Variant Present in the following documents:

• Main text
• ijms-23-04713.pdf

View BVdb publication page

---

A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Molecular And Cellular Pediatrics

Koerber-Rosso, Ingrid I; Brandt, Stephanie S; von Schnurbein, Julia J; Fischer-Posovszky, Pamela P; Hoegel, Josef J; Rabenstein, Hannah H; Siebert, Reiner R; Wabitsch, Martin M

Publication Date: 2021-08-26

Variant appearance in text: LEP: V110M

PubMed Link: 34448070

Variant Present in the following documents:

• Main text
• 40348_2021_Article_119.pdf

View BVdb publication page

---

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: LEP: Val110Met; rs1800564

PubMed Link: 29843651

Variant Present in the following documents:

• 12881_2018_608_MOESM1_ESM.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1800564

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: LEP: V110M; rs1800564

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 4

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: LEP: V110M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Resistance to antidepressant treatment is associated with polymorphisms in the leptin gene, decreased leptin mRNA expression, and decreased leptin serum levels.

European Neuropsychopharmacology : The Journal Of The European College Of Neuropsychopharmacology

Kloiber, Stefan S; Ripke, Stephan S; Kohli, Martin A MA; Reppermund, Simone S; Salyakina, Daria D; Uher, Rudolf R; McGuffin, Peter P; Perlis, Roy H RH; Hamilton, Steven P SP; Pütz, Benno B; Hennings, Johannes J; Brückl, Tanja T; Klengel, Torsten T; Bettecken, Thomas T; Ising, Marcus M; Uhr, Manfred M; Dose, Tatjana T; Unschuld, Paul G PG; Zihl, Josef J; Binder, Elisabeth E; Müller-Myhsok, Bertram B; Holsboer, Florian F; Lucae, Susanne S

Publication Date: 2013-07

Variant appearance in text: LEP: Val110Met; rs1800564

PubMed Link: 23026132

Variant Present in the following documents:

• Main text

View BVdb publication page

---

No association of LEPR Gln223Arg polymorphism with leptin, obesity or metabolic disturbances in children.

European Journal Of Medical Research

Pyrzak, B B; Wisniewska, A A; Kucharska, A A; Wasik, M M; Demkow, U U

Publication Date: 2009-12-07

Variant appearance in text: LEP: V110M

PubMed Link: 20156757

Variant Present in the following documents:

• Main text
• 2047-783X-14-S4-201.pdf

View BVdb publication page

---