the PSEN2 gene. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the...
9 KB (1,100 words) - 16:53, 29 January 2023
incidence of 8.7% in patients with familial AD. The presenilin 2 gene (PSEN2) is very similar in structure and function to PSEN1. It is located on chromosome...
32 KB (3,621 words) - 17:25, 4 May 2024
(located on chromosome 14 in humans) that codes for presenilin 1 (PS-1) and PSEN2 (on chromosome 1 in humans) that codes for presenilin 2 (PS-2). Both genes...
20 KB (2,110 words) - 02:44, 10 March 2024
PSEN2. A small study of 200 early-onset AD patients in four East Asian countries found that 16% of patients presented pathogenic APP, PSEN1, or PSEN2...
88 KB (9,045 words) - 10:24, 28 May 2024
ACTC 15q14 CMD1S MYH7 14q12 CMD1T TMPO 12q22 CMD1U PSEN1 14q24.3 CMD1V PSEN2 1q31-q42 CMD1W 611407 VCL 10q22-q23 CMD1X FCMD 9q31 CMD1Y 611878 TPM1 15q22...
38 KB (3,637 words) - 06:02, 5 June 2024
encoding amyloid-beta precursor protein (APP) and presenilins PSEN1 and PSEN2. Most mutations in the APP and presenilin genes increase the production...
181 KB (19,171 words) - 15:44, 9 August 2024
dominant Alström syndrome ALMS1 1:8,600,000 Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177 Amelogenesis imperfecta 1:14,000 Aminolevulinic acid...
42 KB (969 words) - 16:02, 3 April 2024
amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). Over 300 mutations have ben detected in these genes, resulting in an increase...
170 KB (19,936 words) - 16:29, 8 August 2024
nonsynonymous hetero- or homozygous mutation in the exons of APP, PSEN1, and PSEN2 genes comprising the already known familial AD mutations." It is suggested...
13 KB (1,610 words) - 12:38, 26 April 2024
protoporphyrinogen oxidase PRCC (1q23) PRR9 encoding protein Proline rich 9 PSEN2 (1q42): presenilin 2 (Alzheimer disease 4) PTGS2 (1q31) PTPN14 (1q32-41)...
46 KB (3,284 words) - 04:21, 11 April 2024
Q9NYI0 12993 PSD4 HGNC:19096 Q8NDX1 12994 PSEN1 HGNC:9508 P49768 12995 PSEN2 HGNC:9509 P49810 12996 PSENEN HGNC:30100 Q9NZ42 12997 PSG1 HGNC:9514 P11464...
282 KB (17 words) - 07:55, 20 June 2024
form of the disease may carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations...
25 KB (3,113 words) - 11:23, 31 December 2023
Alzheimer’s gene, the others being APP and the two presenilins PSEN1 and PSEN2 and it is the only one also genetically linked to the common, late-onset...
17 KB (1,668 words) - 17:36, 1 December 2023
for which the occurrence of a RVxP motif has been discussed are PKD1 and PSEN2. Geng et al. 2006, p. 1383. Geng et al. 2006, p. 1390. Geng et al. 2006...
14 KB (1,462 words) - 04:36, 26 April 2024
Alzheimer's disease. These include the discovery of the presenilins (PSEN1 and PSEN2), Nicastrin, and SORL1 genes. Presenilin mutations are the most common cause...
6 KB (547 words) - 18:05, 22 November 2023
UBQLN4. UBQLN1 has been shown to interact with HERPUD1, MTOR, P4HB, PSEN1 PSEN2, and UBE3A. TMCO6, GRCh38: Ensembl release 89: ENSG00000135018 – Ensembl...
14 KB (1,428 words) - 04:03, 28 November 2023
BCL2L11, BNIP3, BNIPL, BAD, BAX, BIK, Bcl-2, HRK, IKZF3, Noxa, PPP1CA, PSEN2 RAD9A, RTN1, RTN4, and VDAC1. GRCh38: Ensembl release 89: ENSG00000171552...
19 KB (2,223 words) - 05:29, 3 January 2024
proliferation and differentiation. CIB1 has been shown to interact with RAC3, PSEN2, DNA-PKcs, UBR5 and CD61. GRCh38: Ensembl release 89: ENSG00000185043 –...
18 KB (2,206 words) - 07:13, 10 February 2024
familial Alzheimer's disease (FAD) patients with mutations in APP, PSEN1, or PSEN2 genes as well as late-onset/sporadic Alzheimer's disease (SAD) patients...
41 KB (3,543 words) - 11:13, 9 March 2024
BRCA1 and BRCA2 mutant genes in Breast Cancer and Ovarian Cancer, or PSEN1, PSEN2, and APP genes in early-onset Alzheimer's disease. Additionally, gene sequences...
35 KB (3,719 words) - 05:43, 13 May 2024
Schellenberg to discover the two other EO-FAD genes, presenilin 1 and 2 (PSEN1 and PSEN2). He has published many key studies characterizing the role of the EO-FAD...
36 KB (4,371 words) - 06:48, 6 April 2024
have been identified for this gene. KCNIP4 has been shown to interact with PSEN2. Voltage-gated potassium channel ENSG00000281758 GRCh38: Ensembl release...
6 KB (704 words) - 03:42, 28 October 2022
have been described. Calsenilin has been shown to interact with PSEN1 and PSEN2. Voltage-gated potassium channel GRCm38: Ensembl release 89: ENSMUSG00000079056...
11 KB (1,332 words) - 18:10, 2 August 2024
Alzheimer's disease (FAD). Nicastrin has been shown to interact with PSEN1 and PSEN2. GRCh38: Ensembl release 89: ENSG00000162736 – Ensembl, May 2017 GRCm38:...
7 KB (901 words) - 00:18, 20 October 2022
the ubiquitous enzyme, calpain 1. CAPN1 has been shown to interact with PSEN2. GRCh38: Ensembl release 89: ENSG00000014216 – Ensembl, May 2017 GRCm38:...
9 KB (1,073 words) - 03:00, 30 July 2024
CTNNB1, CD18, CD29, CD49c, CREB1, EIF6, FHL3, IGFBP5, ITGA7, ITGB6, MAPK1, PSEN2, TRAF6, TTN, ZNF638, and ZBTB16. GRCh38: Ensembl release 89: ENSG00000115641...
39 KB (5,044 words) - 06:11, 25 July 2024
has been shown to interact with GP1BA, Filamin, FBLIM1, PSEN1, CD29 and PSEN2. Larsen syndrome GRCh38: Ensembl release 89: ENSG00000136068 – Ensembl,...
11 KB (1,335 words) - 13:21, 8 September 2023
104300; AD10 Alzheimer disease-2; 104310; APOE Alzheimer disease-4; 606889; PSEN2 Alzheimer disease-5; 104300; AD5 Amelogenesis imperfecta, hypomaturation...
234 KB (18,877 words) - 15:43, 9 May 2024