Publications:

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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: STN1: 469G>T; Asp157Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular Dynamic Simulation of Neurexin1α Mutations Associated with Mental Disorder.

Journal Of Molecular Neuroscience : Mn

Hendam, Ashraf A; Al-Sadek, Ahmed Farouk AF; Hefny, Hesham Ahmed HA

Publication Date: 2022-11

Variant appearance in text: STN1: D157Y

PubMed Link: 36197641

Variant Present in the following documents:

• Main text
• 12031_2022_Article_2072.pdf

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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Genes

Callea, Michele M; Martinelli, Diego D; Cammarata-Scalisi, Francisco F; Grimaldi, Chiara C; Jilani, Houweyda H; Grimaldi, Piercesare P; Willoughby, Colin Eric CE; Morabito, Antonino A

Publication Date: 2022-03-11

Variant appearance in text: STN1: Asp157Tyr

PubMed Link: 35328050

Variant Present in the following documents:

• genes-13-00496.pdf

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Molecular Genetics & Genomic Medicine

Acharya, Tanvi T; Firth, Helen V HV; Dugar, Shilpa S; Grammatikopoulos, Tassos T; Seabra, Luis L; Walters, Angharad A; Crow, Yanick J YJ; Parker, Alasdair P J APJ

Publication Date: 2021-12

Variant appearance in text: STN1: 469G>T

PubMed Link: 34110109

Variant Present in the following documents:

• Main text
• MGG3-9-e1708.pdf

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Molecular Genetics & Genomic Medicine

Acharya, Tanvi T; Firth, Helen V HV; Dugar, Shilpa S; Grammatikopoulos, Tassos T; Seabra, Luis L; Walters, Angharad A; Crow, Yanick J YJ; Parker, Alasdair P J APJ

Publication Date: 2021-06-10

Variant appearance in text: STN1: 469G>T

PubMed Link: 34110109

Variant Present in the following documents:

• Main text
• MGG3-9-e1708.pdf

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Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Cells

Amir, Mohd M; Khan, Parvez P; Queen, Aarfa A; Dohare, Ravins R; Alajmi, Mohamed F MF; Hussain, Afzal A; Islam, Asimul A; Ahmad, Faizan F; Hassan, Imtaiyaz I

Publication Date: 2020-02-04

Variant appearance in text: STN1: D157Y

PubMed Link: 32033110

Variant Present in the following documents:

• Main text
• cells-09-00359.pdf

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Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome.

Frontiers In Molecular Biosciences

Amir, Mohd M; Mohammad, Taj T; Kumar, Vijay V; Alajmi, Mohammed F MF; Rehman, Md Tabish MT; Hussain, Afzal A; Alam, Perwez P; Dohare, Ravins R; Islam, Asimul A; Ahmad, Faizan F; Hassan, Md Imtaiyaz MI

Publication Date: 2019

Variant appearance in text: STN1: D157Y

PubMed Link: 31245382

Variant Present in the following documents:

• Main text
• fmolb-06-00041.pdf

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STN1-POLA2 interaction provides a basis for primase-pol α stimulation by human STN1.

Nucleic Acids Research

Ganduri, Swapna S; Lue, Neal F NF

Publication Date: 2017-09-19

Variant appearance in text: STN1: D157Y

PubMed Link: 28934486

Variant Present in the following documents:

• Main text
• gkx621.pdf

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Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

The Journal Of Experimental Medicine

Simon, Amos J AJ; Lev, Atar A; Zhang, Yong Y; Weiss, Batia B; Rylova, Anna A; Eyal, Eran E; Kol, Nitzan N; Barel, Ortal O; Cesarkas, Keren K; Soudack, Michalle M; Greenberg-Kushnir, Noa N; Rhodes, Michele M; Wiest, David L DL; Schiby, Ginette G; Barshack, Iris I; Katz, Shulamit S; Pras, Elon E; Poran, Hana H; Reznik-Wolf, Haike H; Ribakovsky, Elena E; Simon, Carlos C; Hazou, Wadi W; Sidi, Yechezkel Y; Lahad, Avishay A; Katzir, Hagar H; Sagie, Shira S; Aqeilan, Haifa A HA; Glousker, Galina G; Amariglio, Ninette N; Tzfati, Yehuda Y; Selig, Sara S; Rechavi, Gideon G; Somech, Raz R

Publication Date: 2016-07-25

Variant appearance in text: STN1: 469G>T

PubMed Link: 27432940

Variant Present in the following documents:

• Main text
• JEM_20151618.pdf

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