Results 261 to 270 of about 688,262 (355)

A Rare Clinical Presentation of Variegate Porphyria. [PDF]

Mol Genet Genomic Med
Viakhireva I, Murtazina A, Orlova A, Makretskaya N, Nikitin S, Skoblov M.   +5 more
europepmc   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Genetically supported drug target prioritization for rare diseases. [PDF]

Genome Med
Chen R, Duffy Á, Mort M, Cooper DN, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Blood‐based proteomic profiling reveals context‐dependent changes in BCL2‐associated signaling during taxane therapy in breast cancer patients

FEBS Open Bio, EarlyView.
Chemotherapy side effects significantly impact cancer survivors' quality of life. Using protein levels in blood samples from breast cancer patients before and after 12 weeks of taxane treatment, we detected treatment‐dependent changes in calcium signaling and aging pathways associated with cancer recurrence.
Saira Munshani, Eiman Y. Ibrahim, Rozalyn L. Rodwin, Leah M. Ferrucci, Kim Blenman, Maryam Lustberg, Barbara E. Ehrlich   +6 more
wiley   +1 more source

Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study. [PDF]

Hum Mutat
Yang F, Yang T, Xie X, Yang Q, Wang F.
europepmc   +1 more source

Identifying gene expression signatures for risk stratification of postoperative adjuvant chemotherapy in colorectal cancer

FEBS Open Bio, EarlyView.
A novel signature integrating genome‐wide analysis with clinical factors predicts recurrence in stage II colorectal cancer and enables a new risk stratification to guide postoperative adjuvant chemotherapy. Clinical risk stratification for postoperative recurrence in patients with pathological stage II (pStage II) colorectal cancer (CRC) is essential ...
Mayuko Otomo, Keisuke Okuno, Shuichi Watanabe, Sakiko Oba, Hiroyasu Kagawa, Masanori Tokunaga, Daisuke Ban, Yusuke Kinugasa   +7 more
wiley   +1 more source

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]

J Med Genet
Damen L, Broekema MF, Vogel MJ, Korpershoek E, Koudijs MJ, Boersma BR, Dreijerink KM, Zondervan PJ, Dubbink HJ, van Hest LP.   +9 more
europepmc   +1 more source

Prader-Willi syndrome: Genetics, clinical symptoms, and model systems

Maha Saade, Wote Amelo Rike, Omveer Sharma, Ahmad Abu‐Akel, Shani Stern   +4 more
openalex   +1 more source