Results 71 to 80 of about 279,590 (292)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

A novel carcinogenic mouse model by site‐directed insertion of tandem human HRAS large DNA fragment into 15E1 site

Animal Models and Experimental Medicine, EarlyView.
The NF‐hHRAS mouse model was generated through Chr15 E1 locus‐targeted integration of a 21 kb multicopy HRAS gene cluster. The NF‐hHRAS model demostrated tissue‐specific expression of human HRAS across multiple organs and low spontaneous tumorigenesis.
Susu Liu, Yanwei Yang, Guitao Huo, Hao Yang Zhao, Chen Ling, YuYa Wang, Shijie Zhai, Xiaowei Sun, Wenda Gu, Yuan Cao, Wei Gong, Sanlong Wang, Changfa Fan   +12 more
wiley   +1 more source

Protein Signatures of Parathyroid Adenoma according to Tumor Volume and Functionality [PDF]

Endocrinology and Metabolism
Background Parathyroid adenoma (PA) is a common endocrine disease linked to multiple complications, but the pathophysiology of the disease remains incompletely understood.
Sung Hye Kong, Jeong Mo Bae, Jung Hee Kim, Sang Wan Kim, Dohyun Han, Chan Soo Shin   +5 more
doaj   +1 more source

Detection of inflammation- and neoplasia-associated alterations in human large intestine using plant/invertebrate lectins, galectin-1 and neoglycoproteins [PDF]

, 1998
Commonly, plant and invertebrate lectins are accepted glycohistochemical tools for the analysis of normal and altered structures of glycans in histology and pathology.
Bosbach, R., Brinck, U., Gabius, Hans-Joachim, Korabiowska, M.   +3 more
core   +1 more source

Vitamin D‐induced mechanisms in cancer prevention and therapy: Recent advances and future opportunities

Animal Models and Experimental Medicine, EarlyView.
Vitamin D, traditionally known to promote calcium and bone health, is being explored for its role in cancer prevention and treatment through its influence on cell proliferation, differentiation, apoptosis, and immune response. The vitamin D receptor (VDR) regulates gene expression and interacts with key signaling pathways such as Wnt/β‐catenin, MAPK ...
D. Prasanth, Pathan Amanulla Khan, Jamal‐E‐Fatima, Trupti Pratik Durgawale, Falak Arjumand Siddique, Sharuk L. Khan, Azmath Farhana, Uttam Prasad Panigrahy, Mohammed Abdul Aziz shahid, Mohammed Sayeed, Md. Faysal   +10 more
wiley   +1 more source

CO2 laser treatment for vulvar syringoma: a case report [PDF]

Surgical & Cosmetic Dermatology
Syringoma is a rare benign adnexal tumor of the intraepidermal eccrine duct of unknown etiology. It is typically characterized by multiple, bilateral, yellow-brownish or skin-colored papules measuring 1-5 mm.
Giovana Junqueira Gerbasi, Panny Rushaster Cordeiro de Albuquerque, Dayane de Assis Pereira Hansen Cavalheiro, Ana Carolina Silva Chuery, Neila Maria de Góis Speck   +4 more
doaj   +1 more source

Adenomatous Tumors of the Middle Ear: A Literature Review

International Archives of Otorhinolaryngology, 2017
Introduction Neuroendocrine adenomas of the middle ear (NAME) are uncommon causes of middle ear masses. Mostly limited to case reports and small series, the literature is poor in providing an overall assessment of these tumors.
Flavia Amarante Cardoso, Eduardo Machado Rossi Monteiro, Livia Bernardi Lopes, Marianna Novaes da Costa Avila, Bernardo Oliveira Scarioli   +4 more
doaj   +1 more source

Acute WNT signalling activation perturbs differentiation within the adult stomach and rapidly leads to tumour formation [PDF]

, 2013
A role for WNT signalling in gastric carcinogenesis has been suggested due to two major observations. First, patients with germline mutations in adenomatous polyposis coli (APC) are susceptible to stomach polyps and second, in gastric cancer, WNT ...
A Gregorieff, A Horii, A Jung, A Novak, AC de Vries, AN Milne, AT Franco, B Kim, B Tycko, C Cavard, D Athineos, D M Pritchard, DM Parkin, E Half, E Tahara, EF Chan, G Gatta, H Guillen-Ahlers, H Ireland, H Luche, H Nagase, H Oshima, H Shibata, H Watanabe, H Zhang, HC Zheng, HJ Freeman, J Cordero, J Neumann, J Parsonnet, J Woodgett, JG Forte, K Miyazawa, K Oien, KF Becker, KW Kinzler, LK Bianchi, M Crabtree, M Iida, M Nakayama, M Shitashige, M Suzuki, M Suzuki, M Torbenson, MG Smith, MP Ebert, N Barker, N Barker, N Barker, N Barker, N Barker, N Harada, N Murata-Kamiya, N Uemura, O J Sansom, O Sokolova, O Tetsu, OJ Sansom, P Blache, P Correa, P Correa, P Lauren, P Salgueiro, P Soriano, PJ Guilford, R A Ridgway, R Kemp, R Poulsom, S Garrean, S Nakatsuru, S Patel, S Patel, S Radulescu, S Segditsas, S Sekine, SC Abraham, SC Abraham, SM Przemeck, SS Ng, T Gnad, T Oda, TC He, WM Clements, WS Park, XC He, Y Miyoshi, Y Park do, Z Spicer, Z Zhao   +88 more
core   +1 more source

Goitre and Iodine Deficiency in Europe [PDF]

, 1985
The prevalence of endemic iodine-deficiency goitre in Europe has been reduced in many areas by the introduction of iodination programmes. Recent reports, however, show that goitre remains a significant problem and that its prevalence has not decreased in
Beckers, C., Bürgi, H., Escobar del Rey, F., Gembicki, M., Koutras, D. A., Lamberg, B. A., Langer, P., Lazarus, J. H., Querido, A., Scriba, Peter Christian, Thilly, C., Vigneri, R.   +11 more
core   +4 more sources

Artificial intelligence‐enabled digital biomedical engineering

BMEMat, EarlyView.
This review presents a comprehensive overview, emphasizing the critical role of artificial intelligence (AI) in biomedical engineering. It further explores the implications of AI for future biomedical research and clinical practice, aiming to provide theoretical insights for academic investigation and technological innovation in the field.
Peiran Song, Xuan Tang, Xukun Lv, Rui L. Reis, Xiao Chen, Long Bai, Jiacan Su   +6 more
wiley   +1 more source