Results 161 to 170 of about 110,880 (279)

P600: Maximizing equity in newborn screening via reporting variants of uncertain significance (VUS)

Genetics in Medicine Open
Denise Kay, Carlos Saavedra-Matiz, Jacklyn Dott, Jing Xiao, Michele Caggana   +4 more
doaj   +1 more source

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment. [PDF]

Front Pediatr
Tariq H, Salpietro V, Houlden H, Stevanin G.   +3 more
europepmc   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation. [PDF]

Int J Neonatal Screen
Thokala P, Bessey A, Knowles R, Marshall J, Visintin C, Lawton M, Lombardo S.   +6 more
europepmc   +1 more source

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center [PDF]

, 2001
Patricia G. Wheeler, Rosemarie Smith, Henry L. Dorkin, Richard B. Parad, Anne Marie Comeau, Diana W. Bianchi   +5 more
openalex   +1 more source

Tobacco Smoke Exposure From Prenatal To Adolescent Periods Drives IBD Pathogenesis: Dynamic DNA Methylation Signatures Across Lifespan Stages

Advanced Science, EarlyView.
This study illustrates that maternal smoking during pregnancy (MSDP) is an independent risk factor for IBD in offspring, and DNA methylation serves as a key mechanistic pathway connecting early‐life smoking exposure with IBD risk in offspring. That highlights the urgent need for preventive interventions targeting prospective parents and minors to ...
Han Zhang, Jianhui Zhao, Jie Chen, Xinyi Ma, Siyun Zhou, Alexandra Noble, Rahul Kalla, Judith Wellens, Kun Liu, Evropi Theodoratou, Jack Satsangi, Xue Li   +11 more
wiley   +1 more source

Development, Validation, and Application of the Paya Hamsan Technolgies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants

Abbas Ali Khodadadi, Saber Nanbedeh, Mahsa Joodaki, Mohsen Ehsanfar, Bradford L. Therrell, Kambiz Gilany   +5 more
openalex   +1 more source

Cidea Targeting Protects Cochlear Hair Cells and Hearing Function From Drug‐ and Noise‐Induced Damage

Advanced Science, EarlyView.
Acquired sensorineural hearing loss is primarily caused by the damage or loss of cochlear hair cells, induced by factors such as noise exposure and ototoxic drugs. The deficiency of apoptosis‐inducing gene Cidea in Cidea KO mice or by delivering CRISPR/SlugCas9‐HF via AAV to edit Cidea effectively alleviated hair cell damage and hearing loss caused by ...
Shasha Zhang, Ruiying Qiang, Yuan Zhang, Jinxian Wan, Chen Tao, Ying Dong, Xujun Tang, Li Xu, Hairong Xiao, Yanqin Lin, Wei Tong, Ying Ma, Yongming Wang, Peng Li, Renjie Chai   +14 more
wiley   +1 more source