Results 161 to 170 of about 245,400 (261)

Structural Remodeling and Enzymatic Replacement Shape the Evolution of Organellar Group II Introns in <i>Ulva</i>. [PDF]

Int J Mol Sci
Liu F, Jin S, Song H.
europepmc   +1 more source

Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin, Dong Keon Kim, Yoojeong Seo, Hyeon Hee Lee, Jihye Park, Soo Jung Park, Jae Jun Park, Jae Hee Cheon, Jongwon Oh, Sanghoo Lee, Tae Il Kim   +10 more
wiley   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. [PDF]

Kidney Int Rep
Rao D, van den Berge BT, Vulto-van Silfhout AT, Rood IM, van Wijk JAE, Bökenkamp A, Damen L, Rump P, van der Smagt JJ, Jansen J, Smeets B, Wetzels JF, Maas RJ, van Geel M.   +13 more
europepmc   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

Telomere-to-telomere characterization of rDNA chromosome in the myxomycete Didymium iridis. [PDF]

BMC Mol Cell Biol
Khan A, Jørgensen TE, Jakt LM, Karlsen BO, Hedberg A, Johansen SD.   +5 more
europepmc   +1 more source

Chromosome‐level genome and methylome of vine tea suggest roles for tandem duplication and CHH hypomethylation in high dihydromyricetin accumulation

iMetaOmics, EarlyView.
A chromosome‐level genome assembly and single‐base resolution methylome of vine tea (Nekemias grossedentata) reveal that lineage‐specific tandem duplications of dihydromyricetin (DHM) biosynthetic genes (NgCHS and NgF3′5′ H) have expanded their copy numbers, providing the genetic basis for high DHM flux.
Yingmei Wu, Hanrui Hu, Qing Ye, Xueqing Chen, Miyuan Tian, Jing Li, Li Lu, Yifei Liu, Yi Shang, Yanling Li, Xingyao Xiong, Junbo Gou   +11 more
wiley   +1 more source

Pervasive enhanced transcription in inflammatory breast cancer tumors and PBMCs impacts RNA splicing and intronic RNAs in plasma. [PDF]

Sci Adv
Wylie D, Wang X, Yao J, Xu H, Ferrick-Kiddie EA, Iwase T, Krishnamurthy S, Ueno NT, Lambowitz AM.   +8 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

The IR-Homeostat Hypothesis: Intron Retention as an Evolutionarily Conserved Fine-Tuning Layer and a Reversible Blood Biomarker of Homeostatic Dysregulation in Mood Disorders. [PDF]

Int J Mol Sci
Okada N, Maruko A, Oshima K, Nishi A, Kobayashi Y.   +4 more
europepmc   +1 more source

Molecular features of a Huntington's disease knock-in minipig. [PDF]

Dis Model Mech
Kolesnikova A, Sathasivam K, Tusi SK, Landles C, Osborne GF, Kovalenko M, Gillis T, Kamenná E, Sekáč D, Nguyen DT, Valeková I, Juhás Š, Juhásová J, Levinská B, Baxa M, Motlík J, Klíma J, Howland D, Wheeler VC, Bates GP, Ellederova Z.   +20 more
europepmc   +1 more source