Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2287838

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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BRD4 and PIN1 gene polymorphisms are associated with high pulse pressure risk in a southeastern Chinese population.

Bmc Cardiovascular Disorders

Qiu, Jin-Jia JJ; Yang, Rui-Zhi RZ; Tang, Yi-Jie YJ; Lin, Ying-Yi YY; Xu, Hao-Jie HJ; Zhang, Na N; Liang, Min M; Cai, Hong-da HD; Zeng, Kai K; Wu, Xiao-Dan XD

Publication Date: 2020-11-04

Variant appearance in text: rs2287838

PubMed Link: 33148187

Variant Present in the following documents:

• Main text
• 12872_2020_Article_1757.pdf

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Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study.

Bmc Medical Genetics

Bragantini, Daniela D; Sivertsen, Børge B; Gehrman, Philip P; Lydersen, Stian S; Güzey, Ismail Cüneyt IC

Publication Date: 2019-11-12

Variant appearance in text: rs2287838

PubMed Link: 31718593

Variant Present in the following documents:

• Main text
• 12881_2019_Article_916.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PIN1: 382+198G>A; rs2287838

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.

Molecular Psychiatry

Gottlieb, D J DJ; Hek, K K; Chen, T-H TH; Watson, N F NF; Eiriksdottir, G G; Byrne, E M EM; Cornelis, M M; Warby, S C SC; Bandinelli, S S; Cherkas, L L; Evans, D S DS; Grabe, H J HJ; Lahti, J J; Li, M M; Lehtimäki, T T; Lumley, T T; Marciante, K D KD; Pérusse, L L; Psaty, B M BM; Robbins, J J; Tranah, G J GJ; Vink, J M JM; Wilk, J B JB; Stafford, J M JM; Bellis, C C; Biffar, R R; Bouchard, C C; Cade, B B; Curhan, G C GC; Eriksson, J G JG; Ewert, R R; Ferrucci, L L; Fülöp, T T; Gehrman, P R PR; Goodloe, R R; Harris, T B TB; Heath, A C AC; Hernandez, D D; Hofman, A A; Hottenga, J-J JJ; Hunter, D J DJ; Jensen, M K MK; Johnson, A D AD; Kähönen, M M; Kao, L L; Kraft, P P; Larkin, E K EK; Lauderdale, D S DS; Luik, A I AI; Medici, M M; Montgomery, G W GW; Palotie, A A; Patel, S R SR; Pistis, G G; Porcu, E E; Quaye, L L; Raitakari, O O; Redline, S S; Rimm, E B EB; Rotter, J I JI; Smith, A V AV; Spector, T D TD; Teumer, A A; Uitterlinden, A G AG; Vohl, M-C MC; Widen, E E; Willemsen, G G; Young, T T; Zhang, X X; Liu, Y Y; Blangero, J J; Boomsma, D I DI; Gudnason, V V; Hu, F F; Mangino, M M; Martin, N G NG; O'Connor, G T GT; Stone, K L KL; Tanaka, T T; Viikari, J J; Gharib, S A SA; Punjabi, N M NM; Räikkönen, K K; Völzke, H H; Mignot, E E; Tiemeier, H H

Publication Date: 2015-10

Variant appearance in text: rs2287838

PubMed Link: 25469926

Variant Present in the following documents:

• Main text

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Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk.

Bmc Research Notes

Vázquez-Higuera, José L JL; Mateo, Ignacio I; Sánchez-Juan, Pascual P; Rodríguez-Rodríguez, Eloy E; Pozueta, Ana A; Calero, Miguel M; Dobato, José L JL; Frank-García, Ana A; Valdivieso, Fernando F; Berciano, José J; Bullido, Maria J MJ; Combarros, Onofre O

Publication Date: 2011-09-07

Variant appearance in text: rs2287838

PubMed Link: 21899770

Variant Present in the following documents:

• Main text
• 1756-0500-4-327.pdf

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A PIN1 polymorphism that prevents its suppression by AP4 associates with delayed onset of Alzheimer's disease.

Neurobiology Of Aging

Ma, Suk Ling SL; Tang, Nelson Leung Sang NL; Tam, Cindy Woon Chi CW; Lui, Victor Wing Cheong VW; Lam, Linda Chiu Wa LC; Chiu, Helen Fung Kum HF; Driver, Jane Ann JA; Pastorino, Lucia L; Lu, Kun Ping KP

Publication Date: 2012-04

Variant appearance in text: rs2287838

PubMed Link: 20580132

Variant Present in the following documents:

• Main text

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A novel functional variant (-842G>C) in the PIN1 promoter contributes to decreased risk of squamous cell carcinoma of the head and neck by diminishing the promoter activity.

Carcinogenesis

Lu, Jiachun J; Hu, Zhibin Z; Wei, Sheng S; Wang, Li-E LE; Liu, Zhensheng Z; El-Naggar, Adel K AK; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2009-10

Variant appearance in text: rs2287838

PubMed Link: 19625347

Variant Present in the following documents:

• Main text

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