Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management by Soo Hyun Kim, Hensin Tsao

“…Unlike other cutaneous melanomas, acral melanoma does not arise from UV radiation exposure and is accordingly associated with a relatively low tumor mutational burden. Recent advances in genomic, transcriptomic, and epigenomic sequencing have revealed genetic alterations unique to acral melanoma, including novel driver genes, high copy number variations, and complex chromosomal rearrangements. …”
Get full text

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…There can be multiple affected family members if it is inherited, though many autosomal dominant ID cases would be due to de novo mutations are very less likely to recur in families. …”
Get full text

China’s policies: post-COVID-19 challenges for the older population by Xuezhi Wei, Guoqing Han, Quansheng Wang

“…However, given the ongoing prevalence of coronavirus, emerging mutations, and the liberalization of restrictions, there are increased risks of vulnerable people contracting new variants. …”
Get full text

The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension by Rajiv D. Machado

“…The impact of identified mutations on the cell is examined, particularly, the determination of pathways disrupted in disease and critical to pulmonary vascular maintenance. …”
Get full text

Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic Functions by Shuo-Chien Ling

“…TAR DNA-binding protein-43 KDa (TDP-43) and fused in sarcoma (FUS) as the defining pathological hallmarks for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), coupled with ALS-FTD-causing mutations in both genes, indicate that their dysfunctions damage the motor system and cognition. …”
Get full text

PROTAC technology for prostate cancer treatment by Zhen Wang, Dingpeng Zhang, Hiroyuki Inuzuka, Wenyi Wei

“…Key contributors to PrCa progression include genetic mutations, elevated androgen receptor expression, gene amplification, and the rise of androgen receptor splice variants. …”
Get full text

A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“… Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. …”
Get full text

Neuropsychiatric disorders in Wilson’s disease: literature review by S. Galnaitytė, A. Musneckis

“… Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs. …”
Get full text

Heat Shock Protein 70 Neutralizes Apoptosis-Inducing Factor by Guido Kroemer

“…Programmed cell death (apoptosis) is the physiological process responsible for the demise of superfluous, aged, damaged, mutated, and ectopic cells. Its normal function is essential both for embryonic development and for maintenance of adult tissue homeostasis. …”
Get full text

Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations by Antonella Carsana

“…Triggering agents cause an altered intracellular calcium regulation. Mutations in RYR1 gene have been found in about 70% of MH families. …”
Get full text

INTESTINAL MICROBIOME - A LEADING FACTOR IN HUMAN HEALTH AND DISEASES by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical studies it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms within genome-wide association analyses (GWAS). …”
Get full text

An ‘extraordinary change’ in the Climate: The Transformative Power of Impressionism in George Moore’s Art Criticism by Fabienne Gaspari

“…This article examines how George Moore responded to the disruptive nature of works by Whistler, Monet and Manet. It shows that the mutations generated by technological advances created new ways of seeing reflected in this new art. …”
Get full text

Le site emporté par l’image ? by Lucinda Groueff, Sonia Keravel

“…Teaching landscape architecture requires transmitting the codes and references pertaining to the different fields of visual culture which underpin a changing culture of landscape architecture in tune with social mutations. How do these new relationships with images, facilitated by digital practices transform architectural approaches? …”
Get full text

Lettrés, rebelles et autres bandits face à l’ordre colonial. Réflexions sur l’esprit de résistance et le patriotisme vietnamien by Trinh Van Thao

“…Avec les substantielles mutations de la société vietnamienne apparaissent de nouvelles contestations du statu quo colonial, avec une sérieuse rivalité entre nationalistes et communistes. …”
Get full text

The Role of Deubiquitinating Enzymes in Synaptic Function and Nervous System Diseases by Jennifer R. Kowalski, Peter Juo

“…The importance of DUB function at the synapse is underscored by the association of specific mutations in DUB genes with several neurological disorders. …”
Get full text

Hemin Augments Growth and Hemoglobinization of Erythroid Precursors from Patients with Diamond-Blackfan Anemia by Eitan Fibach, Memet Aker

“…The disease is commonly caused by mutations in genes for ribosomal proteins. Despite the identification of disease causal genes, the disease pathogenesis is not completely elucidated. …”
Get full text

A jelen pillanat fogalma Marcus Aureliusnál by Nikoletta Hendrik

“…Marcus Aurelius gondolkodásának egyes elemei nem jelentenek forradalmi újdonságot, ám azok kombinációja egy újszerű sztoikus cselekvéselméleti felfogás irányába mutat legfőbb szellemi mesteréhez, Epiktétoszhoz képest is. …”
Get full text

MRI Findings in Neuroferritinopathy by Emiko Ohta, Yoshihisa Takiyama

“…Neuroferritinopathy is a neurodegenerative disease which demonstrates brain iron accumulation caused by the mutations in the ferritin light chain gene. On brain MRI in neuroferritinopathy, iron deposits are observed as low-intensity areas on T2WI and as signal loss on T2*WI. …”
Get full text

The prognosis and metabolite changes of NSCLC patients receiving first‐line immunotherapy combined chemotherapy in different M1c categories according to 9th edition of TNM classifi... by Liang Zheng, Fang Hu, Wei Nie, Jun Lu, Bo Zhang, Jianlin Xu, Shuyuan Wang, Ying Li, Xiaoxuan Zheng, Wei Zhang, Yinchen Shen, Runbo Zhong, Tianqing Chu, Baohui Han, Hua Zhong, Xueyan Zhang

“…The primary frontline therapy for patients with advanced non‐small cell lung cancer (NSCLC), lacking driver gene mutations, involves the use of immune checkpoint inhibitors (ICIs) combined with chemotherapy. …”
Get full text

Cancer treatment comes to age: from one-size-fits-all to next-generation sequencing (NGS) technologies by Sepideh Parvizpour, Hanieh Beyrampour-Basmenj, Jafar Razmara, Farhad Farhadi, Mohd Shahir Shamsir

“…NGS is expected to lead the transition to precision medicine (PM), where the right therapeutic approach is chosen for each patient based on their characteristics and mutations. Here, we highlight how the NGS technology facilitates cancer treatment. …”
Get full text