Publications:

---

Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines

Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H

Publication Date: 2023-04-24

Variant appearance in text: rs165932

PubMed Link: 37238932

Variant Present in the following documents:

• biomedicines-11-01261.pdf

View BVdb publication page

---

Gene Expression Profiling as a Novel Diagnostic Tool for Neurodegenerative Disorders.

International Journal Of Molecular Sciences

Martínez-Iglesias, Olaia O; Naidoo, Vinogran V; Carril, Juan Carlos JC; Seoane, Silvia S; Cacabelos, Natalia N; Cacabelos, Ramón R

Publication Date: 2023-03-17

Variant appearance in text: rs165932

PubMed Link: 36982820

Variant Present in the following documents:

• Main text
• ijms-24-05746.pdf

View BVdb publication page

---

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Cns Neuroscience & Therapeutics

Xiao, Xuewen X; Liu, Hui H; Zhou, Lu L; Liu, Xixi X; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Hao, Xiaoli X; Liu, Yingzi Y; Zhang, Weiwei W; Zhou, Yafang Y; Wang, Junling J; Li, Jinchen J; Jiao, Bin B; Shen, Lu L; Liao, Xinxin X

Publication Date: 2022-10-10

Variant appearance in text: rs165932

PubMed Link: 36217304

Variant Present in the following documents:

• Main text
• CNS-29-122.pdf

View BVdb publication page

---

Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Plos One

Tejada Moreno, Johanna Alexandra JA; Villegas Lanau, Andrés A; Madrigal Zapata, Lucia L; Baena Pineda, Ana Yulied AY; Velez Hernandez, Juan J; Campo Nieto, Omer O; Soto Ospina, Alejandro A; Araque Marín, Pedronel P; Rishishwar, Lavanya L; Norris, Emily T ET; Chande, Aroon T AT; Jordan, I King IK; Bedoya Berrio, Gabriel G

Publication Date: 2022

Variant appearance in text: rs165932

PubMed Link: 35905044

Variant Present in the following documents:

• Main text
• pone.0269955.pdf

View BVdb publication page

---

Personalized Management and Treatment of Alzheimer's Disease.

Life (Basel, Switzerland)

Cacabelos, Ramón R; Naidoo, Vinogran V; Martínez-Iglesias, Olaia O; Corzo, Lola L; Cacabelos, Natalia N; Pego, Rocío R; Carril, Juan C JC

Publication Date: 2022-03-21

Variant appearance in text: rs165932

PubMed Link: 35330211

Variant Present in the following documents:

• life-12-00460.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: PSEN1: 868+16G>T; rs165932

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Influence of Pathogenic and Metabolic Genes on the Pharmacogenetics of Mood Disorders in Alzheimer's Disease.

Pharmaceuticals (Basel, Switzerland)

Cacabelos, Ramón R; Carril, Juan C JC; Corzo, Lola L; Fernández-Novoa, Lucía L; Pego, Rocío R; Cacabelos, Natalia N; Cacabelos, Pablo P; Alcaraz, Margarita M; Tellado, Iván I; Naidoo, Vinogran V

Publication Date: 2021-04-15

Variant appearance in text: rs165932

PubMed Link: 33920985

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs165932

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: rs165932

PubMed Link: 32973976

Variant Present in the following documents:

• Main text
• 1980-5764-dn-14-03-223.pdf

View BVdb publication page

---

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: PSEN1: 868+16G>T; rs165932

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PSEN1: 868+16G>T; rs165932

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs165932

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2019-09-11

Variant appearance in text: rs165932

PubMed Link: 31514322

Variant Present in the following documents:

• Main text
• nutrients-11-02181.pdf

View BVdb publication page

---

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs165932

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: PSEN1: 868+16G>T; rs165932

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Variants in Notch signalling pathway genes, PSEN1 and MAML2, predict overall survival in Chinese patients with epithelial ovarian cancer.

Journal Of Cellular And Molecular Medicine

Xu, Yuan Y; Cheng, Lei L; Dai, Hongji H; Zhang, Ruoxin R; Wang, Mengyun M; Shi, Tingyan T; Sun, Menghong M; Cheng, Xi X; Wei, Qingyi Q

Publication Date: 2018-10

Variant appearance in text: rs165932

PubMed Link: 30055028

Variant Present in the following documents:

• Main text
• JCMM-22-4975.pdf

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs165932

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

---

Update on Vascular Cognitive Impairment Associated with Subcortical Small-Vessel Disease.

Journal Of Alzheimer'S Disease : Jad

Wallin, Anders A; Román, Gustavo C GC; Esiri, Margaret M; Kettunen, Petronella P; Svensson, Johan J; Paraskevas, George P GP; Kapaki, Elisabeth E

Publication Date: 2018

Variant appearance in text: rs165932

PubMed Link: 29562536

Variant Present in the following documents:

• Main text
• jad-62-jad170803.pdf

View BVdb publication page

---

Population-based Study of Risk Polymorphisms Associated with Vascular Disorders and Dementia.

Current Genomics

Teijido, Óscar Ó; Carril, Juan Carlos JC; Cacabelos, Ramón R

Publication Date: 2017-10

Variant appearance in text: rs165932

PubMed Link: 29081698

Variant Present in the following documents:

• Main text
• CG-18-430.pdf

View BVdb publication page

---

Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births.

Genetics And Molecular Biology

Bhaumik, Pranami P; Ghosh, Priyanka P; Ghosh, Sujay S; Feingold, Eleanor E; Ozbek, Umut U; Sarkar, Biswanath B; Dey, Subrata Kumar SK

Publication Date: 2017

Variant appearance in text: rs165932

PubMed Link: 28767121

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2016-0138.pdf

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs165932

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Plos One

Wu, Xiaohang X; Lai, Weiyi W; Lin, Haotian H; Liu, Yizhi Y

Publication Date: 2017

Variant appearance in text: rs165932

PubMed Link: 28253266

Variant Present in the following documents:

• Main text
• pone.0172092.pdf

View BVdb publication page

---

Genetic polymorphisms of interleukin genes and the risk of Alzheimer's disease: An update meta-analysis.

Meta Gene

Mun, Myung-Jin MJ; Kim, Jin-Ho JH; Choi, Ji-Young JY; Jang, Won-Cheoul WC

Publication Date: 2016-06

Variant appearance in text: rs165932

PubMed Link: 27014584

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population.

Molecular Vision

Wu, Min M; Zheng, Can C; Yuan, Rong-Di RD; Sun, Min M; Xu, Yan Y; Ye, Jian J

Publication Date: 2015

Variant appearance in text: rs165932

PubMed Link: 25883527

Variant Present in the following documents:

• Main text
• mv-v21-412.pdf

View BVdb publication page

---

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.

European Journal Of Human Genetics : Ejhg

Keller, Lina L; Welander, Hedvig H; Chiang, Huei-Hsin HH; Tjernberg, Lars O LO; Nennesmo, Inger I; Wallin, Asa K AK; Graff, Caroline C

Publication Date: 2010-11

Variant appearance in text: rs165932

PubMed Link: 20628413

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Human Molecular Genetics

Corneveaux, Jason J JJ; Myers, Amanda J AJ; Allen, April N AN; Pruzin, Jeremy J JJ; Ramirez, Manuel M; Engel, Anzhelika A; Nalls, Michael A MA; Chen, Kewei K; Lee, Wendy W; Chewning, Kendria K; Villa, Stephen E SE; Meechoovet, Hunsar B HB; Gerber, Jill D JD; Frost, Danielle D; Benson, Hollie L HL; O'Reilly, Sean S; Chibnik, Lori B LB; Shulman, Joshua M JM; Singleton, Andrew B AB; Craig, David W DW; Van Keuren-Jensen, Kendall R KR; Dunckley, Travis T; Bennett, David A DA; De Jager, Philip L PL; Heward, Christopher C; Hardy, John J; Reiman, Eric M EM; Huentelman, Matthew J MJ

Publication Date: 2010-08-15

Variant appearance in text: rs165932

PubMed Link: 20534741

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessment of Alzheimer's disease case-control associations using family-based methods.

Neurogenetics

Schjeide, Brit-Maren M BM; McQueen, Matthew B MB; Mullin, Kristina K; DiVito, Jason J; Hogan, Meghan F MF; Parkinson, Michele M; Hooli, Basavaraj B; Lange, Christoph C; Blacker, Deborah D; Tanzi, Rudolph E RE; Bertram, Lars L

Publication Date: 2009-02

Variant appearance in text: rs165932

PubMed Link: 18830724

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

Neurogenetics

Kauwe, John S K JS; Wang, Jun J; Mayo, Kevin K; Morris, John C JC; Fagan, Anne M AM; Holtzman, David M DM; Goate, Alison M AM

Publication Date: 2009-02

Variant appearance in text: rs165932

PubMed Link: 18813964

Variant Present in the following documents:

• Main text

View BVdb publication page

---