Results 141 to 150 of about 1,702,970 (343)

Dominant missense mutations in ABCC9 cause Cantú syndrome

Nature Genetics, 2012
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined.
Harakalova, M., van Harssel, J.J., Terhal, P.A., van Lieshout, S., Duran, K., Renkens, I., Amor, D.J., Wilson, L.C., Kirk, E.P., Turner, C.L., Shears, D., Garcia-Minaur, S., Lees, M.M., Ross, A., Venselaar, H., Vriend, G., Vriend, G., Takanari, H., Rook, M.B., van der Heyden, M.A., Asselbergs, F.W., Breur, H.M., Swinkels, M.E., Scurr, I.J., Smithson, S.F., Knoers, N.V.A.M., van der Smagt, J.J., Nijman, IJ, Kloosterman, W.P., van Haelst, M.M., van Haaften, G., Cuppen, E.   +31 more
openaire   +8 more sources

Sensing and Reprogramming Surface Receptor Activation With Synthetic Transcriptional Circuits

Advanced Science, EarlyView.
A synthetic receptor‐signalling induced transcription (RESIT) circuit is designed based on receptor activation mediated split protease complementation and release of membrane‐tethered synthetic transcriptional modules. The RESIT system enables probing Ca2+ entry, receptor tyrosine kinase (RTK) activities and Ras activation, and reprogramming RTK ...
Fei Liu, Mei Yuan, Li‐Juan Tang, Fenglin Wang, Xia Chu, Jian‐Hui Jiang   +5 more
wiley   +1 more source

Identify truly high-risk TP53-mutated diffuse large B cell lymphoma patients and explore the underlying biological mechanisms

Cell Communication and Signaling
TP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du, Yi-Fan Wu, Wei Hua, Zi-Wen Duan, Rui Gao, Jun-Heng Liang, Yue Li, Hua Yin, Jia-Zhu Wu, Hao-Rui Shen, Li Wang, Yang Shao, Jian-Yong Li, Jin-Hua Liang, Wei Xu   +14 more
doaj   +1 more source

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
doaj   +1 more source

EEPD1 Inhibition Unleashes Antitumor Immunity in Colorectal Cancer by Activating the cGAS‐STING Pathway

Advanced Science, EarlyView.
In colorectal cancer, high expression of the DNA repair protein EEPD1 correlates with immune exclusion and poor prognosis. This study demonstrates that EEPD1 depletion induces genomic instability, leading to cytosolic DNA accumulation and subsequent activation of the cGAS‐STING‐type I interferon pathway. This cascade remodels the tumor microenvironment
Liyun Huo, Chong Wu, Xiaobo Li, Caina Ma, Jiamin Huang, Zishuo Chen, Weiling He, Tianyu Tao, Weijing Zhang   +8 more
wiley   +1 more source

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Respiratory Research, 2009
Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A, Phillips Charles A, Stanton Krista C, Yu Chang, Hamid Rizwan, Cogan Joy D, Phillips John A, Austin Eric D, Robbins Ivan M, Newman John H, Loyd James E   +10 more
doaj   +1 more source

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Human Mutation, 2012
Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these ...
Nada Al Tassan, Dania S. Khalil, Jameela M A Shinwari, Latifa J Al Sharif, P. Bavi, Z. Abduljaleel, Nada Abu Dhaim, Amna I. Magrashi, Steve Bobis, Hala A Ahmed, S. AlAhmed, S. Bohlega   +11 more
semanticscholar   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Artificial Intelligence for Bone: Theory, Methods, and Applications

Advanced Intelligent Discovery, EarlyView.
Advances in artificial intelligence (AI) offer the potential to improve bone research. The current review explores the contributions of AI to pathological study, biomarker discovery, drug design, and clinical diagnosis and prognosis of bone diseases. We envision that AI‐driven methodologies will enable identifying novel targets for drugs discovery. The
Dongfeng Yuan, Haicang Zhang, Liping Tong, Di Chen   +3 more
wiley   +1 more source

Clinically Informed Intelligent Classification of Ovarian Cancer Cells by Label‐Free Holographic Imaging Flow Cytometry

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Quantitative phase maps of single cells recorded in flow cytometry modality feed a hierarchical architecture of machine learning models for the label‐free identification of subtypes of ovarian cancer. The employment of a priori clinical information improves the classification performance, thus emulating the clinical application of liquid biopsy during ...
Daniele Pirone, Beatrice Cavina, Daniele Gaetano Sirico, Martina Mugnano, Vittorio Bianco, Lisa Miccio, Anna Myriam Perrone, Anna Maria Porcelli, Giuseppe Gasparre, Ivana Kurelac, Pasquale Memmolo, Pietro Ferraro   +11 more
wiley   +1 more source