Results 231 to 240 of about 176,674 (312)

Alpha‐Synuclein Promotes Anterograde Vesicle Transport in Melanocytes and Melanoma Cells: A Pro‐Survival Function

Journal of the Chinese Chemical Society, EarlyView.
Model for how α‐syn modulates the positioning of endolysosomes in melanoma cells. (a) α‐syn tethers endolysosomes to the plasma membrane, a last step in anterograde transport. (b) Loss of α‐syn expression causes the loss of the tethering function, which leads to perinuclear vesicle clustering. Reproduced from the open access article.
Stephan N. Witt
wiley   +1 more source

The selective dynamics of interruptions at short tandem repeats. [PDF]

Genetics
Goldberg ME, Dashnow H, Harris K, Quinlan AR.   +3 more
europepmc   +1 more source

Assessment of Missense Intolerant Regions (MIRs) in Intrinsically Disordered Proteins (IDPs)

openGenes that are crucial for the function of an organism are depleted of disrupting variants in natural populations, whereas non-essential genes tolerate their accumulation.
RASOULI, SINA
core  

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

Journal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade, Mahsa Kiani Bigdeli, Seyed Sajad Eghbali, Mohammadtaghi Ghiyasi, Roz Rastgoo, Mohammad Javad Mousavi   +5 more
wiley   +1 more source

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Pathogenic Mutations in the Tumor Microenvironment Drive Tumor Progression in Diffuse Large B-Cell Lymphoma Through Tumor-Stroma Cross-Talk. [PDF]

Cancers (Basel)
Aggarwal V, Srinivasan R, Bal A, Malhotra P, Varma S, Das A.   +5 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

TaoChongBao: a large-scale <i>C. elegans</i> missense variant database bridging worm and human genomes. [PDF]

Life Sci Alliance
Li M, Wang S, Chai Y, Guo Z, Wang Z, Chen Z, Lei K, Ke J, Huang X, Chen G, Huang P, Xu K, Shen Z, Li W, Ou G.   +14 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Differential role of CREBBP missense and truncating mutations in germinal center development and lymphomagenesis.

Blood
Yu C, Holloman M, Kim A, Chang Y, Meyer SN, Holmes AB, Cai B, Mo T, Basso K, Dreval K, Morin RD, Bhagat G, Mullighan CG, Dalla-Favera R, Pasqualucci L.   +14 more
europepmc   +1 more source