Results 241 to 250 of about 1,866,513 (309)

A Case of APC Gene Mutation-Associated Familial Adenomatous Polyposis With Multiple System Malignancies. [PDF]

Cancer Rep (Hoboken)
Yijing R, Wenjun W, Xiang G, Kongling X, Yunxia C, Wei L, Ping Z.   +6 more
europepmc   +1 more source

Decreased cold‐sensing function of the transient receptor potential channel TRPM8 from tailed amphibians

FEBS Open Bio, EarlyView.
Despite frogs avoiding low temperatures, examination of four salamander species revealed that none avoided cold and all possessed cold tolerance. Functional analysis of TRPM8, a cold sensor, showed that all salamander TRPM8s had lost their cold sensitivity.
Tadahiro Sawao, Daiki Kobayashi, Shogo Hori, Osamu Saitoh   +3 more
wiley   +1 more source

Prenatal Identification of a Novel <i>ITGB4</i> Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report. [PDF]

Clin Case Rep
Xu Q, Peng X, Ma W, Xiao X, Zhu L, Di N, Li X, Liu Y.   +7 more
europepmc   +1 more source

Rapid screening of staphylokinase protein variants using an unpurified cell‐free expression system

FEBS Open Bio, EarlyView.
An unpurified cell‐free protein synthesis (CFPS) platform enables rapid functional screening of staphylokinase variants. Direct plasminogen‐activation assays performed in microplate format provide real‐time activity readouts, allowing rapid identification and ranking of variants with improved or reduced fibrinolytic activity without protein ...
Maria Tomková, Veronika Hovanová, Jiri Damborsky, Erik Sedlák   +3 more
wiley   +1 more source

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report. [PDF]

J Int Med Res
Xu X, He Z, Shen Y, Zhao J, Geng Y.
europepmc   +1 more source

Evolutionarily divergent DUF4465 domains have a common vitamin B12‐binding function

FEBS Open Bio, EarlyView.
We show that DUF4465 family proteins, widespread across bacteria from gut microbiomes, hydrothermal vents, and soil, share a common vitamin B12‐binding function. These augmented β‐jellyroll proteins bind vitamin B12 via extended loops. Our findings establish sequence‐diverse DUF4465 proteins as a widespread class of B12‐binding proteins, highlighting ...
Charlea Clarke, Michal Banasik, Rokas Juodeikis, Martin J. Warren, Richard W. Pickersgill   +4 more
wiley   +1 more source

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review. [PDF]

Front Endocrinol (Lausanne)
Huang S, Lin A, Zhang N, He W, Huo Y, Wang C.   +5 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

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib. [PDF]

Iran J Pathol
Vahedi-Larijani L, Sotoudeh Anvari M, Biglari A, Nabati M, Banihashemi H, Mohammadi Kharkeshi M.   +5 more
europepmc   +1 more source