Aortic and arterial manifestations and clinical features inTGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium DOI
M. Lim, Dongchuan Guo,

Walter Velasco Torrez

и другие.

Journal of Medical Genetics, Год журнала: 2024, Номер unknown, С. jmg - 110251

Опубликована: Дек. 9, 2024

Background Pathogenic variants in TGFB3 may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events occur -related but there are limited outcomes data on vascular this condition. Methods Clinical data, phenotypical features individuals with pathogenic/likely pathogenic (P/LP) enrolled the Montalcino Aortic Consortium registry were reviewed. Results 34 (56% male, median age 42 years, IQR 17–49, range 3–74 years) P/LP studied. Craniofacial, cutaneous musculoskeletal seen Loeys-Dietz syndrome variably present. Extra-aortic cardiovascular included tortuosity (25%), extra-aortic aneurysms (6%) mitral valve prolapse (21%). dilation (Z-Score>2) was present 10 (29%) dissection occurred 2 (6%). Type A two patients (aged between 55 years 60 years), one of these experienced type B 6 later. Seven adults (median 62 32–69 root (41–49 mm) being followed. No have undergone prophylactic surgery. Twenty-five per cent children dilation. Sixty-eight entire cohort remains free disease. deaths occurred. Conclusions HTAD is characterised by late-onset less penetrant compared other transforming growth factor β HTAD. Based our larger size threshold for surgery appropriate due TGFBR1 or TGFBR2 variants.

Язык: Английский

Phenotypic Manifestations of a New Variant in HDAC4 Gene DOI

Monica Ianniello,

Valentina De Angelis,

Alessandro Ottaiano

и другие.

American Journal of Medical Genetics Part B Neuropsychiatric Genetics, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Psychomotor development delays affect 1%-3% of children and encompass a wide range motor, cognitive, social impairments. The histone deacetylase 4 (HDAC4) gene, critical for neurodevelopmental pathways, has been associated with developmental delays, autism spectrum disorders, cognitive Here, we report case female patient global psychomotor delay, hypotonia, feeding difficulties since infancy. By the age seven, she developed epilepsy, later diagnosed as Lennox-Gastaut syndrome. Brain magnetic resonance imaging revealed reduced white matter polymicrogyria-like cortical malformations, primarily in fronto-basal regions. Whole-exome sequencing identified novel de novo HDAC4 mutation (p.Gln1046AspfsTer29; c.3136_3137delCA), resulting frameshift premature stop codon. Additional phenotypic features included distinct craniofacial abnormalities hypertrichosis. This highlights role function, expands mutations, suggests potential link to epilepsy malformations.

Язык: Английский

Процитировано

0
No more nonsense: evaluating poison exons as therapeutic targets in neurodevelopmental disorders DOI
Somenath Bakshi, Lori L. Isom

Current Opinion in Genetics & Development, Год журнала: 2025, Номер 92, С. 102346 - 102346

Опубликована: Апрель 9, 2025

Язык: Английский

Процитировано

0
RNA–DNA Differences: Mechanisms, Oxidative Stress, Transcriptional Fidelity, and Health Implications DOI Creative Commons

Viktor Štolc,

Ondrej Preto,

Miloslav Karhánek

и другие.

Antioxidants, Год журнала: 2025, Номер 14(5), С. 544 - 544

Опубликована: Апрель 30, 2025

RNA–DNA differences (RDDs) challenge the traditional view of RNA as a faithful copy DNA, arising through editing, transcriptional errors, and oxidative damage. Reactive oxygen species (ROS) play central role, inducing lesions like 8-oxo-guanine that compromise transcription translation, leading to dysfunctional proteins. This review explores biochemical basis RDDs, their exacerbation under stress, dual roles in cellular adaptation disease. RDDs contribute genomic instability are implicated cancers, neurodegenerative disorders, autoimmune diseases, while also driving phenotypic diversity. Drawing on terrestrial spaceflight studies, we highlight intersection RDD formation, dysfunction, proposing innovative mitigation approaches. Advancements detection quantification, along with ROS management therapies, offer new avenues restore homeostasis promote resilience. By positioning hallmark entropy, this underscores limits biological adaptation. Furthermore, prevalence guanine-rich codons antioxidant genes increases susceptibility ROS-induced lesions, linking redox instability, constrained These insights have profound implications for understanding aging, disease progression, adaptive mechanisms both space environments.

Язык: Английский

Процитировано

0
Nonsense-mediated mRNA decay: physiological significance, mechanistic insights and future implications DOI

Asish Kumar Patro,

G. Panigrahi, Sanjoy Majumder

и другие.

Pathology - Research and Practice, Год журнала: 2024, Номер 264, С. 155677 - 155677

Опубликована: Окт. 30, 2024

Язык: Английский

Процитировано

2
Advancements in Contemporary Pharmacological Innovation: Mechanistic Insights and Emerging Trends in Drug Discovery and Development DOI Creative Commons
Sanjoy Majumder, G. Panigrahi

Intelligent Pharmacy, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 1, 2024

Язык: Английский

Процитировано

0
Aortic and arterial manifestations and clinical features inTGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium DOI
M. Lim, Dongchuan Guo,

Walter Velasco Torrez

и другие.

Journal of Medical Genetics, Год журнала: 2024, Номер unknown, С. jmg - 110251

Опубликована: Дек. 9, 2024

Background Pathogenic variants in TGFB3 may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events occur -related but there are limited outcomes data on vascular this condition. Methods Clinical data, phenotypical features individuals with pathogenic/likely pathogenic (P/LP) enrolled the Montalcino Aortic Consortium registry were reviewed. Results 34 (56% male, median age 42 years, IQR 17–49, range 3–74 years) P/LP studied. Craniofacial, cutaneous musculoskeletal seen Loeys-Dietz syndrome variably present. Extra-aortic cardiovascular included tortuosity (25%), extra-aortic aneurysms (6%) mitral valve prolapse (21%). dilation (Z-Score>2) was present 10 (29%) dissection occurred 2 (6%). Type A two patients (aged between 55 years 60 years), one of these experienced type B 6 later. Seven adults (median 62 32–69 root (41–49 mm) being followed. No have undergone prophylactic surgery. Twenty-five per cent children dilation. Sixty-eight entire cohort remains free disease. deaths occurred. Conclusions HTAD is characterised by late-onset less penetrant compared other transforming growth factor β HTAD. Based our larger size threshold for surgery appropriate due TGFBR1 or TGFBR2 variants.

Язык: Английский

Процитировано

0