2025.12.12

アルドステロン欠損症の診断上の落とし穴:早期発症型疑似低アルドステロン症2型の9年間の追跡調査

Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.

書誌情報

DOI 10.1515/jpem-2025-0526
PMID 41380172
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41380172/
発行年 2025
著者名 Cay Mevra, Turan Ihsan, Atmıs Bahriye, Kotan Leman Damla, Celebi Sukriye Tu...
雑誌名 Journal of pediatric endocrinology & metabolism : JPEM
2025.12.10

HLA-DQB1*03:01が独立してタイプ1ナルコレプシーの発症年齢に強く影響

HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity.

書誌情報

DOI 10.1073/pnas.2513989122
PMID 41364757
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364757/
発行年 2025
著者名 Zhang Lisan, Cai Shuo, Teng Ashton, Lin Ling, Han Fang, Yan Han, Hong Seung...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.10

セントロメアクラスタリングと3次元ゲノム構造

Organization principles of dynamic three-dimensional genome architecture associated with centromere clustering states.

書誌情報

DOI 10.1073/pnas.2520310122
PMID 41364759
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364759/
発行年 2025
著者名 Polisetty Satya Dev, Dutta Shuvadip, Vadnala Rakesh Netha, Notani Dimple, P...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.10

生物多様性データの影響:予測と記述の研究

Globally aggregated biodiversity data impact predictive and descriptive research.

書誌情報

DOI 10.1073/pnas.2519119122
PMID 41364761
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364761/
発行年 2025
著者名 Steinke Dirk, Gemeinholzer Birgit, Martínez-Meyer Enrique, Noesgaard Daniel...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.10

A. baumanniiによる肺感染の細胞内貯蔵

Intracellular acts as a transient reservoir in lung infection via a "persist and resist" strategy.

書誌情報

DOI 10.1073/pnas.2511369122
PMID 41364768
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364768/
発行年 2025
著者名 Janet-Maitre Manon, Di Venanzio Gisela, Jackson-Litteken Clay D, Scott Nich...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.10

多発性骨髄腫の腫瘍と免疫の長期的プロファイリング

Longitudinal profiling of tumor and immune compartments uncovers patterns of dysregulation and associations with response in multiple myeloma.

書誌情報

DOI 10.1158/2643-3230.BCD-25-0205
PMID 41364805
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364805/
発行年 2025
著者名 Ohlstrom Denis J, Pilcher William C, Michaud Marina E, Acharya Chaitanya, S...
雑誌名 Blood cancer discovery
2025.12.10

ツゲの遺伝子解析から見えた、神経酸の生合成と絶滅危惧種A. tsinglingenseの遺伝子の脆弱性

Comparative genomic analysis of Acer tsinglingense and A. davidii provides insights into nervonic acid biosynthesis, population evolution and genome vulnerability of endangered A. tsinglingense.

書誌情報

DOI 10.1111/tpj.70625
PMID 41364852
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364852/
発行年 2025
著者名 Meng Xin, López-Pujol Jordi, Zhang Qi-Jing, Yue Ming, Li Zhong-Hu
雑誌名 The Plant journal : for cell and molecular biology
2025.12.10

遺伝子非特異治療の自然経過と費用対影響のモデリング

Modelling Natural History and Cost-Effectiveness of Gene-Agnostic Treatment in Retinitis Pigmentosa.

書誌情報

DOI 10.1097/IAE.0000000000004735
PMID 41364873
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364873/
発行年 2025
著者名 Sullivan Patrick W, Wertheimer Albert I, Grover Sandeep, Jayasundera Kanish...
雑誌名 Retina (Philadelphia, Pa.)
2025.12.10

CAR T細胞療法における大細胞B細胞リンパ腫の微生物叢と代謝物バイオマーカー

Microbiome and metabolite biomarkers of CAR T-cell therapy outcomes in relapsed/refractory diffuse large B cell lymphoma.

書誌情報

DOI 10.1182/bloodadvances.2025016858
PMID 41364878
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364878/
発行年 2025
著者名 Yoon Sang Eun, Kang Woorim, Cho Junhun, Cho Hyeon Ji, Chalita Mauricio, Oh ...
雑誌名 Blood advances
2025.12.10

小麦の抵抗性と感受性遺伝子と代謝物の相互作用の解明

Revealing gene-metabolite interactions in wheat defenses against in resistant and susceptible genotypes.

書誌情報

DOI 10.1139/gen-2025-0026
PMID 41364905
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41364905/
発行年 2026
著者名 Ferreira Larissa Carvalho, Santana Flavio Martins, Beckmann Manfred, Mur Lu...
雑誌名 Genome
2025.12.09

Waspergillamide Aの生合成には非クラスター遺伝子とデプシ-テトラペプチドジケトピペラジン形成NRPSが関与

Biosynthesis of Waspergillamide A Involves Unclustered Genes and a -Tetrapeptide Diketopiperazine-Forming NRPS.

書誌情報

DOI 10.1021/acs.orglett.5c04405
PMID 41359808
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41359808/
発行年 2025
著者名 Zeng Xian-Liang, Yang Wencong, Du Yi-Fan, Li Hang
雑誌名 Organic letters
2025.12.09

アゾシクロチンがCDK4に結合し、ゼブラフィッシュのエピジェネティックな子孫への遺伝にDNAメチル化を妨げる

Azocyclotin Binds CDK4 to Disrupt DNA Methylation in Zebrafish Epigenetic Transgenerational Inheritance.

書誌情報

DOI 10.1021/acs.est.5c10762
PMID 41359812
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41359812/
発行年 2025
著者名 Wang Aoxue, Shi Shiyao, Ma Yongfang, Li Shuying, Zhu Wei, Gui Wenjun
雑誌名 Environmental science & technology
2025.12.09

哺乳類の嗅覚を示す嗅球内部の化石像

The olfactory bulb endocast as a proxy for mammalian olfaction.

書誌情報

DOI 10.1073/pnas.2510575122
PMID 41359846
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41359846/
発行年 2025
著者名 Martinez Quentin, Molinier Cécile, Barraza-Soltero Ilse K, Berger Elena, Le...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.09

マグレブ地域とヨルダンにおける先天性孤立性難聴とアッシャー症候群の遺伝学:同系性の潜在能力を活用

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

書誌情報

DOI 10.1073/pnas.2518445122
PMID 41359850
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41359850/
発行年 2025
著者名 Riahi Zied, Boucher Sophie, Abdi Samia, Wong Jun Tai Fabienne, Singh-Estiva...
雑誌名 Proceedings of the National Academy of Sciences of the United States of America
2025.12.09

中国の希少なp型と抗PP1P(k)を持つ家系における新規ヌルアレルA4GALT*02: c.457_463dupの同定

Identification of a novel null allele A4GALT*02: c.457_463dup in one Chinese pedigree with the rare p phenotype and anti-PP1P.

書誌情報

DOI 10.1111/trf.70028
PMID 41359872
PubMed URL https://pubmed.ncbi.nlm.nih.gov/41359872/
発行年 2026
著者名 Jin Yuelin, Li Tongtong, Yang Jinlin, Wu Qilei, Deng Hong, Su Shengye, Jia ...
雑誌名 Transfusion