Results 141 to 150 of about 164,097 (264)
The Journal of Pathology, EarlyView.Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan +9 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
Pediatric Discovery, EarlyView.MicroRNA‐130a‐3p targets and inhibits MAFB expression, leading to the development of hypospadimas. MicroRNA‐130a‐3p inhibits the expression of MAFB, disrupts the normal processes of cell proliferation, migration, cell apoptosis, and cycle progression, and ultimately leads to the development of hypospadias.
Jiaxin Zhou +10 more
wiley +1 more source
Testis‐Enriched F‐Box Protein FBXO39 Is Important for Spermiogenesis and Male Fertility in Mice
Andrology, EarlyView.ABSTRACT Background The SCF (Skp–Cullin–F‐box) complex is a major class of E3 ubiquitin ligases. F‐box proteins constitute the SCF complex and play a critical role in recognizing substrates for ubiquitination. In mice, several F‐box proteins, including FBXO36 and FBXO39, are predominantly expressed in testes.
Yuki Kaneda +2 more
wiley +1 more source
CRYAB is compromised in pathologically affected oligodendrocytes in multiple system atrophy
Brain Pathology, EarlyView.CRYAB is hypermethylated and colocalizes with α‐synuclein in multiple system atrophy oligodendrocytes.
Finula I. Isik +7 more
wiley +1 more source
Compartmentalisation in cAMP signalling: A phase separation perspective
British Journal of Pharmacology, EarlyView.Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley +1 more source
British Journal of Pharmacology, EarlyView.The κ opioid receptor (κ receptor, KOR) is a G protein‐coupled receptor with well established roles in analgesia and immune modulation. Although historically studied primarily in the central nervous system (CNS), growing evidence indicates that κ signalling in peripheral tissues plays an important role in regulating pain, inflammation and immune ...
Rumsha Khan +3 more
wiley +1 more source