Results 171 to 180 of about 151,779 (318)

Top‐Down Proteomics Study of Aging and Sexual Dimorphism of Zebrafish Brains

Journal of Mass Spectrometry, Volume 61, Issue 1, January 2026.
ABSTRACT Aging significantly impacts brain function and increases susceptibility to neurodegenerative diseases, with notable sex dimorphism observed in aging‐related dementia, such as Alzheimer's disease. To better understand the molecular mechanisms of aging and dementia, it is essential to globally and accurately characterize biomolecules (e.g ...
Mehrdad Falamarzi Askarani, William Poulos, Maryam Rahimzadeh Dashtaki, Seyed Amirhossein Sadeghi, Jose B. Cibelli, Fei Fang, Liangliang Sun   +6 more
wiley   +1 more source

The structure and expression of mammalian gene clusters [PDF]

, 1982
Boer, E. de, Bud, H., Bullman, H., Busslinger, M., Flavell, Richard A., Golden, L., Groffen, J., Grosveld, F., Kleine, A. de, Mellor, Andrew L., Moschonas, N., Weiss, Elisabeth H.   +11 more
core   +2 more sources

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Sequence Analysis of the Promoter Region of the Human θ1 Globin Gene

, 1991
Jae Ho Kim
openalex   +1 more source

Altered DNA-binding specificity mutants of EKLF and Sp1 show that EKLF is an activator of the β-globin locus control region in vivo [PDF]

, 1998
Nynke Gillemans, Rita Tewari, Fokke Lindeboom, Robbert J. Rottier, Ton de Wit, Mark Wijgerde, Frank Grosveld, Sjaak Philipsen   +7 more
openalex   +1 more source

Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies [PDF]

, 2022
Vigneshwaran Venkatesan, Abisha Crystal Christopher, Prathibha Babu, Manoj Kumar K. Azhagiri, Kaivalya Walavalkar, Bharath Saravanan, Saranya Srinivasan, Karthik V. Karuppusamy, Annlin Jacob, Sumathi Rangaraj, Abhirup Bagchi, Aswin Anand Pai, Yukio Nakamura, Poonkuzhali Balasubramanian, Rekha Pai, Srujan Marepally, Kumarasamypet M. Mohankumar, Shaji R Velayudhan, Dimple Notani, Alok Srivastava, Saravanabhavan Thangavel   +20 more
openalex   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source

Reconstitution of native human hemoglobin from separated globin chains and alloplex intermediates.

, 1977
Y K Yip, Marcel Waks, Sherman Beychok
openalex   +2 more sources

Identification of a novel termination codon mutation (TAA-->TAT, Term-- >Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease [letter] [PDF]

, 1994
JS Waye, Barry Eng, M Patterson, David H.K. Chui, NF Olivieri   +4 more
openalex   +1 more source

Purification and characterization of recombinant human translation initiation factor eIF3

Protein Science, Volume 35, Issue 1, January 2026.
Abstract Eukaryotic translation initiation factor 3 (eIF3) is an essential factor in protein synthesis. In mammals, it is a ~800 kDa complex composed of 12–13 subunits. Biochemical and mechanistic studies of the function of eIF3 and its individual subunits in translation require purified eIF3.
Irene Diaz‐Lopez, Yuliya Gordiyenko, Philipp K. Zuber, Xueyan Li, V. Ramakrishnan   +4 more
wiley   +1 more source