Results 111 to 120 of about 255,701 (284)

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

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

International Journal of Endocrinology, 2018
Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods.
Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu   +8 more
doaj   +1 more source

Intraflagellar transport delivers tubulin isotypes to sensory cilium middle and distal segments. [PDF]

, 2011
Sensory cilia are assembled and maintained by kinesin-2-dependent intraflagellar transport (IFT). We investigated whether two Caenorhabditis elegans α- and β-tubulin isotypes, identified through mutants that lack their cilium distal segments, are ...
Acar, Seyda, Brust-Mascher, Ingrid, Civelekoglu-Scholey, Gul, Hao, Limin, Lu, Yun, Prevo, Bram, Scholey, Jonathan M, Shaham, Shai, Thein, Melanie   +8 more
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

Orthopaedic Surgery
Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD.
Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen   +7 more
doaj   +1 more source

A missense mutation (p.Tyr452Cys) in the CAD gene compromises reproductive success in French Normande cattle [PDF]

, 2019
Md Mesbah Uddin, Chris Hozé, Pauline Michot, Anne Barbat, R. Lefèbvre, Mekki Boussaha, Goutam Sahana, Sébastien Fritz, Didier Boichard, Aurélien Capitan   +9 more
openalex   +1 more source