Results 81 to 90 of about 7,742,036 (343)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Experience of the diagnosis and observation of a child with wolf-hirschhorn syndrome

Zdorovʹe Rebenka, 2017
Modern data about the causes, course peculiarities, principles of diagnosis and symptomatic treatment of Wolf-Hirshhorn syndrome are given in the article. The description of own clinical case is presented.
L.V. Besh, O.I. Matsyura, G.V. Bulak, V.N. Chyrun, V.P. Bobyk, D.V. Stakhnyak   +5 more
doaj   +1 more source

ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells

FEBS Open Bio, EarlyView.
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori, Kohei Kawabata, Takanori Kubo, Takeo Kitazawa, Sae Kanai, Madoka Iwashita, Ami Hayashi, Hiroyuki Nishi, Mikihisa Takano   +8 more
wiley   +1 more source

Anatomical Abnormalities in Multiple Permanent Teeth [PDF]

Journal of Clinical and Diagnostic Research, 2015
Karthik Venkataraghavan, Vidhi Shah, Prashant Choudhary, Krishna Trivedi, Shalin Shah   +4 more
doaj   +1 more source

Flower-Like Plasma Cell Nuclei in Multiple Myeloma

Turkish Journal of Hematology, 2021
Abibatou Sall, Moussa Seck, Diama Samb, Blaise Félix Faye, Macoura Gadji, Saliou Diop, Awa Oumar Touré   +6 more
doaj   +1 more source

Optical genome mapping reveals complex cytogenetic abnormalities in multiple myeloma

Haematologica
Not available.
Jorge A. Palacios, Mónica Bernal, Jose R. Vílchez, Pilar Garrido, Pilar Jiménez, Juan F. Gutiérrez-Bautista, María C. Barrera-Aguilera, Lucía Ballesta, Teresa Rodríguez, María J. Olivares-Durán, Francisco Ruiz-Cabello   +10 more
doaj   +1 more source

Assessing Abnormal Iron Content in the Deep Gray Matter of Patients with Multiple Sclerosis versus Healthy Controls [PDF]

, 2011
Charbel Habib, M. Liu, N. Bawany, James Garbern, Ines Krumbein, HJ Mentzel, Jürgen R. Reichenbach, Christopher Magnano, Robert Zivadinov, E. Mark Haacke   +9 more
openalex   +1 more source

Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae

FEBS Open Bio, EarlyView.
Forward stimulated Raman scattering (F‐SRS) and epi coherent anti‐Stokes Raman scattering (E‐CARS) allow label‐free discrimination of distinct subcellular structures in the pancreas of living zebrafish larvae. Given the straightforward applicability, we anticipate broad implementation of Raman microscopy in other organs and across various biomedical ...
Noura Faraj, Eline M. F. de Lange, Klaas A. Sjollema, Ben N. G. Giepmans   +3 more
wiley   +1 more source

Cytogenetic abnormalities in patients with newly diagnosed multiple myeloma as a secondary primary malignancy: a retrospective study [PDF]

, 2020
Yi‐Ting Wang, Yong Wu, Zhenshu Xu, Huarong Zhou, Yuanzhong Chen, Rong Zhan   +5 more
openalex   +1 more source

The effect of salubrinal on the endoplasmic reticulum stress pathway in heat‐stressed spermatogonial cells in vitro

FEBS Open Bio, EarlyView.
This study investigates the protective role of salubrinal against heat‐induced endoplasmic reticulum (ER) stress in mouse spermatogenic cells (GC1 and GC2). By modulating the ER stress pathway, salubrinal alleviates cellular stress and supports spermatogenic cell survival, suggesting its potential as a therapeutic candidate for heat‐related infertility.
Suna Karadeniz Saygili, Mustafa Oztatlici, Mahmut Kemal Ozbilgin   +2 more
wiley   +1 more source