Update Literature

data/literature/AR_batch_01.txt

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+PMID- 41762523
+OWN - NLM
+STAT- Publisher
+LR  - 20260228
+IS  - 2352-3964 (Electronic)
+IS  - 2352-3964 (Linking)
+VI  - 125
+DP  - 2026 Feb 26
+TI  - Short tandem repeat expansions in patients with neurodegenerative dementia.
+PG  - 106190
+LID - S2352-3964(26)00072-1 [pii]
+LID - 10.1016/j.ebiom.2026.106190 [doi]
+AB  - BACKGROUND: Due to the overlapping clinical features of neurodegenerative 
+      dementia (NDD)-including Alzheimer's disease (AD), frontotemporal dementia (FTD), 
+      dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP), 
+      accurate diagnosis remains challenging in early stages. Multiple dementias can be 
+      caused by short tandem repeat (STR) expansions. However, systematic investigation 
+      of known pathogenic STRs in large dementia cohorts remains lacking. METHODS: We 
+      used ExpansionHunter (EH) to assess 22 neurodegenerative disease-associated STRs 
+      in whole-genome sequencing (WGS) data from 950 patients with AD, 222 patients 
+      with FTD, 165 patients with DLB, 231 patients with PSP, and 1522 cognitively 
+      normal controls. Repeat primed-polymerase chain reaction (RP-PCR) was performed 
+      to validate EH calls that exceeded the intermediate thresholds of STR. We also 
+      attempted to use ExpansionHunter Denovo (EHDn) to detect C9orf72 expansions 
+      missed by EH. FINDINGS: EHDn improved the detection rate of C9orf72 expansions. 
+      After sample quality control, 33 PCR-validated pathogenic expansions were 
+      identified in nine genes (C9orf72, ATXN8OS, NOTCH2NLC, HTT, FMR1, DMPK, AR, 
+      CACNA1A, and PPP2R2B) among 1559 patients with NDD, accounting for 2.12% of 
+      cases. Burden-based logistic regression analyses demonstrated that the presence 
+      of pathogenic STR expansions was significantly associated with NDD status (OR = 
+      3.57, p = 4.70 x 10(-2)). Additionally, intermediate-length TBP alleles showed a 
+      nominal enrichment in PSP compared with controls (2.61% vs 0.54%; OR = 6.25, p = 
+      2.00 x 10(-2)). INTERPRETATION: Our findings provide evidence for the clinical 
+      pleiotropy of STRs in NDD and their involvement in NDD pathogenesis. FUNDING: 
+      This study was supported by the National Natural Science Foundation of 
+      China(U22A20300, 82502244, 823714434, 82071216), the National Key R&D Program of 
+      China(2023YFC3603700), STI2030-Major Projects(2021ZD0201803), Outstanding Youth 
+      Fund of Hunan Provincial Natural Science Foundation(2024JJ2097), Youth Fund of 
+      Hunan Provincial Natural Science Foundation(2025JJ60696), Hunan Health Commission 
+      Grant(20232460), Postdoctoral Fellowship Program of CPSF(GZC20233185), China 
+      Postdoctoral Science Foundation (2025M772318), and the Scientific Research 
+      Program of FuRong Laboratory (2024PT5108).
+CI  - Copyright (c) 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
+FAU - Zhu, Yuan
+AU  - Zhu Y
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Xiao, Xuewen
+AU  - Xiao X
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Liu, Yiliang
+AU  - Liu Y
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Wang, Zheng
+AU  - Wang Z
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; National Clinical Research Center for Geriatric Disorders, Central South 
+      University, Changsha, China.
+FAU - Luo, Tengfei
+AU  - Luo T
+AD  - National Clinical Research Center for Geriatric Disorders, Central South 
+      University, Changsha, China.
+FAU - Xu, Tianyan
+AU  - Xu T
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Yang, Qijie
+AU  - Yang Q
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Hao, Xiaoli
+AU  - Hao X
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Zhang, Cong
+AU  - Zhang C
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Zhang, Sizhe
+AU  - Zhang S
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China.
+FAU - Luo, Shilin
+AU  - Luo S
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; Engineering Research Center of Hunan Province in Cognitive Impairment 
+      Disorders, Central South University, Changsha, China.
+FAU - Zhou, Yafang
+AU  - Zhou Y
+AD  - Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, 
+      Central South University, Changsha, China; Department of Geriatrics, Xiangya 
+      Hospital, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Liao, Xinxin
+AU  - Liao X
+AD  - Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, 
+      Central South University, Changsha, China; Department of Geriatrics, Xiangya 
+      Hospital, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Tian, Yun
+AU  - Tian Y
+AD  - Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, 
+      Central South University, Changsha, China; Department of Geriatrics, Xiangya 
+      Hospital, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Weng, Ling
+AU  - Weng L
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; Engineering Research Center of Hunan Province in Cognitive Impairment 
+      Disorders, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Fang, Liangjuan
+AU  - Fang L
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; Engineering Research Center of Hunan Province in Cognitive Impairment 
+      Disorders, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Tang, Beisha
+AU  - Tang B
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; National Clinical Research Center for Geriatric Disorders, Central South 
+      University, Changsha, China; Engineering Research Center of Hunan Province in 
+      Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan 
+      International Scientific and Technological Cooperation Base of Neurodegenerative 
+      and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Jiao, Bin
+AU  - Jiao B
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; Engineering Research Center of Hunan Province in Cognitive Impairment 
+      Disorders, Central South University, Changsha, China; Hunan International 
+      Scientific and Technological Cooperation Base of Neurodegenerative and 
+      Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China.
+FAU - Li, Jinchen
+AU  - Li J
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; National Clinical Research Center for Geriatric Disorders, Central South 
+      University, Changsha, China; Bioinformatics Center, Furong Laboratory and Xiangya 
+      Hospital, Central South University, Changsha, China. Electronic address: 
+      lijinchen@csu.edu.cn.
+FAU - Shen, Lu
+AU  - Shen L
+AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
+      China; National Clinical Research Center for Geriatric Disorders, Central South 
+      University, Changsha, China; Engineering Research Center of Hunan Province in 
+      Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan 
+      International Scientific and Technological Cooperation Base of Neurodegenerative 
+      and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in 
+      Neurodegenerative Disorders, Central South University, Changsha, China; 
+      Bioinformatics Center, Furong Laboratory and Xiangya Hospital, Central South 
+      University, Changsha, China; FuRong Laboratory, Changsha, Hunan, China. 
+      Electronic address: shenlu@csu.edu.cn.
+LA  - eng
+PT  - Journal Article
+DEP - 20260226
+PL  - Netherlands
+TA  - EBioMedicine
+JT  - EBioMedicine
+JID - 101647039
+SB  - IM
+OTO - NOTNLM
+OT  - C9orf72 expansion
+OT  - Neurodegenerative dementia
+OT  - Short tandem repeat (STR)
+OT  - TBP repeat
+OT  - Whole-genome sequencing (WGS)
+COIS- Declaration of interests All authors declare no financial or non-financial 
+      competing interests.
+EDAT- 2026/02/28 12:54
+MHDA- 2026/02/28 12:54
+CRDT- 2026/02/28 11:39
+PHST- 2025/10/28 00:00 [received]
+PHST- 2026/02/12 00:00 [revised]
+PHST- 2026/02/12 00:00 [accepted]
+PHST- 2026/02/28 12:54 [medline]
+PHST- 2026/02/28 12:54 [pubmed]
+PHST- 2026/02/28 11:39 [entrez]
+AID - S2352-3964(26)00072-1 [pii]
+AID - 10.1016/j.ebiom.2026.106190 [doi]
+PST - aheadofprint
+SO  - EBioMedicine. 2026 Feb 26;125:106190. doi: 10.1016/j.ebiom.2026.106190.
+
 PMID- 41564929
 OWN - NLM
 STAT- Publisher
@@ -3247,7 +3442,7 @@ PMID- 37936145
 OWN - NLM
 STAT- MEDLINE
 DCOM- 20231109
-LR  - 20231129
+LR  - 20260217
 IS  - 1757-2215 (Electronic)
 IS  - 1757-2215 (Linking)
 VI  - 16
@@ -3436,15 +3631,16 @@ PL  - England
 TA  - J Ovarian Res
 JT  - Journal of ovarian research
 JID - 101474849
-RN  - 0 (Receptors, Androgen)
 RN  - 80497-65-0 (Anti-Mullerian Hormone)
+RN  - 0 (Receptors, Androgen)
 SB  - IM
 MH  - Female
 MH  - Humans
+MH  - Anti-Mullerian Hormone
 MH  - *Polycystic Ovary Syndrome
-MH  - Receptors, Androgen/genetics
 MH  - Polymorphism, Genetic
-MH  - Anti-Mullerian Hormone
+MH  - Receptors, Androgen/genetics
+MH  - Practice Guidelines as Topic
 PMC - PMC10629046
 OTO - NOTNLM
 OT  - Androgen receptor
@@ -23720,6 +23916,7 @@ PST - ppublish
 SO  - Hum Mol Genet. 2012 Oct 1;21(19):4225-36. doi: 10.1093/hmg/dds246. Epub 2012 Jun 
       26.
 
+
 PMID- 22731640
 OWN - NLM
 STAT- MEDLINE
@@ -23818,7 +24015,6 @@ PST - ppublish
 SO  - Genet Test Mol Biomarkers. 2012 Aug;16(8):835-40. doi: 10.1089/gtmb.2011.0322. 
       Epub 2012 Jun 25.
 
-
 PMID- 22653589
 OWN - NLM
 STAT- MEDLINE
@@ -38111,7 +38307,7 @@ PT  - Research Support, Non-U.S. Gov't
 PL  - Brazil
 TA  - Braz J Med Biol Res
 JT  - Brazilian journal of medical and biological research = Revista brasileira de 
-      pesquisas medicas e biologica
+      pesquisas medicas e biologicas
 JID - 8112917
 RN  - 0 (Genetic Markers)
 RN  - 0 (Receptors, Androgen)
@@ -41222,6 +41418,7 @@ AID - 10.1038/sj.leu.2401631 [doi]
 PST - ppublish
 SO  - Leukemia. 2000 Jan;14(1):207-12. doi: 10.1038/sj.leu.2401631.
 
+
 PMID- 10617922
 OWN - NLM
 STAT- MEDLINE
@@ -41309,7 +41506,6 @@ AID - 10.1076/opge.20.4.243.2273 [doi]
 PST - ppublish
 SO  - Ophthalmic Genet. 1999 Dec;20(4):243-9. doi: 10.1076/opge.20.4.243.2273.
 
-
 PMID- 10574254
 OWN - NLM
 STAT- MEDLINE