Results 61 to 70 of about 65,541 (228)

Ataxia telangiectasia (A-T) [PDF]

, 2017
Review on Ataxia telangiectasia, with data on clinics, and the gene ...
Shiloh, Yossi
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

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

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

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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 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

Hashimoto thyroiditis associated with ataxia telangiectasia

, 2012
Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers. In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia.
Ünal, Ekrem, Patıroğlu, Tahir, Kurtoglu, Selim, Yıkılmaz, Ali, Patıroğlu, Türkan, Güngör, Hatice Eke   +5 more
core   +1 more source

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

BMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +8 more
wiley   +1 more source

Glycosylated dendrimer nanoamplifiers hijack DNA damage‐immune crosstalk for enhanced dual‐track therapy of orthotopic glioblastoma

BMEMat, EarlyView.
A glycosylated dendrimer nanoamplifier hijacks DNA damage‐immune crosstalk for enhanced radio‐immunotherapy of glioblastoma. The responsive release of demethylcantharidin simultaneously blocks repair‐mediated resistance by inhibiting DNA repair and overcomes adaptive immune resistance.
Cong Song, Binghan Liu, Junjie Liu, Ce Li, Wenqing Man, Xurui Sun, Chang Yuan, Yanjun Wang, Hong Pan, Shuanglian Wang, Zhiming Zheng   +10 more
wiley   +1 more source