Results 51 to 60 of about 35,381 (234)

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

A rare case of ataxia telangiectasia with intracranial tumor

CHRISMED Journal of Health and Research, 2014
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and ...
Gangadhar M Chatterjee, Rittu S Chandel, Pallavi J Kamble   +2 more
doaj   +1 more source

Ataxia telangiectasia (A-T) [PDF]

, 2017
Review on Ataxia telangiectasia, with data on clinics, and the gene ...
Shiloh, Yossi
core   +1 more source

The Host Cell Factor Phosphatase‐2A Subunit PR130 Restricts Replication of Herpes Simplex Virus Type‐1

Advanced Science, EarlyView.
Molecular, genetic, virological, and biochemical analysis in combination with global proteome and phosphoproteome profiling and functional assays were applied to study the role of PR130 in the context of HSV‐1 replication. The observations reveal that host‐intrinsic mechanisms regulate HSV‐1 replication and highlight PR130 as a susceptibility factor of
Johannes Jungwirth, Christoph F. Jacob, Alexandra Nguyen, Mandy Beyer, Andreas O. Mieland, Mario Dejung, Jia‐Xuan Chen, Walburgis Brenner, Christina Ehrhardt, Andreas Henke, Oliver H. Krämer   +10 more
wiley   +1 more source

Dysarthria in children and adults with ataxia telangiectasia [PDF]

, 2021
Contains fulltext : 232754.pdf (Publisher’s version ) (Open Access)AIM: To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia.
Mulder, E.H., Willemsen, M.A.A.P., Weemaes, C.M.R., Os, N.J.H. van, Gerven, M.H.J.C van, Haaften, L. van, Veenhuis, S.J.G.   +6 more
core   +1 more source

Nucleic Acid Therapeutics for “Undruggable” Cancer Targets: Mechanisms, Challenges, and Prospects

Advanced Science, EarlyView.
Nucleic acid therapeutics bypass the structural limitations of conventional drugs by targeting mRNA rather than proteins. This review examines how antisense oligonucleotides, siRNAs, miRNAs, aptamers, and mRNA vaccines intervene against historically undruggable oncoproteins including Ras, MYC, and p53, highlighting mechanistic advances, delivery ...
Feng Xu, Ke Wang, Kaizhong Lu, Tianlun Hou, Yuan Chen, Xian Wang, Hongchuan Jin   +6 more
wiley   +1 more source

Ataxia Telangiectasia: A Case Report

, 2017
Ataxia telangiectasia (AT) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and occulo-cutaneous telangiectasia.
SC Mojumder, Mohammad Sayeed Hassan, Ferdous Ara, Sheikh Farjana Sonia, Abdullah Yusuf   +4 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

Acta Pediátrica de México, 2015
Antecedentes: la ataxia-telangiectasia es una enfermedad hereditaria con patrón de herencia autosómico recesivo. Se caracteriza por deterioro neurológico, telangiectasias e inmunodeficiencia.
Eduardo Augusto Gálvez-Cuitiva, Cecilia Ridaura-Sanz, Marco Antonio Yamazaki-Nakashimada, Carlos Leal-Leal, Marta Zapata-Tarrés   +4 more
doaj   +1 more source