Results 91 to 100 of about 2,618 (150)

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

, 2022
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell ...
Michelakakis, H., Ioannidou, E., Vessalas, G., Dimitriou, E., Rogalidou, M., Peristeri, I, van Kuilenburg, A. B. P., Nieman, M. M., Moraitou, M., Vaz, F. M., Dimakou, K., Papadopoulou, A., Paisiou, A., Roelofsen, J., Zoetekouw, A., Pons, R., Goorden, I, S. M.   +16 more
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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Journal of Translational Medicine
Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao   +7 more
doaj   +1 more source

The predictive value of the assessment of medicinal sensitivity in colorectal cancer / R. M. Smalyakova

, 2018
Проанализирована экспрессия генов TYMS, TYMP, ERCC1, OPRT и DPD, характеризующая лекарственную чувствительность к препаратам платины и фторпиримидинового ряда у пациентов, страдающих колоректальным раком.
Смолякова, Р. М.
core  

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

, 2010
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis,
BATTISTI C., MACUCCI M., DOTTI M. T., FEDERICO A., CARDAIOLI E., MALFATTI E., GAUDIANO C., GALLUS G. N., MALANDRINI A., DA POZZO P., MARGOLLICCI M., RUBEGNI A.   +11 more
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Minimum fold changes of proteins meeting the group A and B criteria for fold change.

, 2014
Only comparisons including cholesteatoma are shown. Neck: Neck of cholesteatoma; Tymp: Tympanic membrane; EACS: external auditory canal skin; Mucosa: Middle ear mucosa.
Anders Britze (610462), Johan Palmfeldt (199527), Rune Isak Dupont Birkler (584196), Therese Ovesen (610463), Niels Gregersen (199538)   +4 more
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Discovery of PANoptosis-related signatures correlates with immune cell infiltration in psoriasis.

PLoS ONE
Psoriasis is an inflammatory skin disease that relapses frequently. Keratinocyte apoptosis dysregulation plays a crucial role in the pathological mechanisms of psoriasis. PANoptosis is a process with intermolecular interaction among pyroptosis, apoptosis,
Li Wu, Xin-Long Jiao, Ming Jing, Sheng-Xiao Zhang, Yang Wang, Chen-Long Li, Gao-Xiang Shi, Zhuo-Yang Li, Ge-Liang Liu, Kai Yan, Li-Xuan Yan, Qi Wang, Pei-Feng He, Qi Yu   +13 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy disease in three siblings from Pakistan with a novel mutation

, 2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neurological ...
Afroze, Bushra, Chen, Bee Chin, Durrani, Sana, Hian, Lua Seok, Yakob, Yusnita   +4 more
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Identification and role of differentially expressed genes/proteins between pulmonary tuberculosis patients and controls across lung tissues and blood samples

Immunity, Inflammation and Disease
Background Differentially expressed genes/proteins (DEGs/DEPs) play critical roles in pulmonary tuberculosis (PTB) diagnosis and treatment. However, there is a scarcity of reports on DEGs/DEPs in lung tissues and blood samples in PTB patients.
Qifeng Li, Kuerbanjiang Maierheba
doaj   +1 more source

Mendelian randomization identifies circulating proteins as biomarkers for age at menarche and age at natural menopause

Communications Biology
Age at menarche (AAM) and age at natural menopause (ANM) are highly heritable traits and have been linked to various health outcomes. We aimed to identify circulating proteins associated with altered ANM and AAM using an unbiased two-sample Mendelian ...
Nahid Yazdanpanah, Basile Jumentier, Mojgan Yazdanpanah, Ken K. Ong, John R. B. Perry, Despoina Manousaki   +5 more
doaj   +1 more source

MICROBIOLOGICAL SUBSTANTIATION OF THE COMPOSITION OF COMBINED EAR DROPS «TYMP» FOR THE TREATMENT OF OTITIS WITH TYMPANIC MEMBRANE PERFORATION

Aim. To substantiate the qualitative and quantitative composition of safe ear drops for the treatment of acute and chronic otitis media with tympanic membrane perforation based on local microbiological monitoring. Material and methods.
E. T. Zhilyakova, D. S. Martseva
core   +1 more source