Results 261 to 270 of about 83,578 (286)
ABSTRACT Cancer is a major global health concern. Therefore, new treatment options are needed. The phytochemicals have different chemical structures. It also exhibits several other biological activities. Therefore, these compounds are promising anticancer agents. This review aims to identify and assess new candidates for anticancer therapy. Researchers
Alaa A. A. Aljabali+11 more
wiley +1 more source
This review explores pathological disulfide‐crosslinking as a key driver of amyloidogenic protein misfolding and aggregation. Oxidative and ER stress pathways contributing to disease progression are discussed and emerging therapeutic strategies targeting disulfide‐linked aggregates in neurodegenerative and systemic amyloid diseases are examined ...
Dong Min Kang+4 more
wiley +1 more source
ABSTRACT Calreticulin is a multifunctional protein found in the endoplasmic reticulum lumen that is important for calcium homeostasis and glycoprotein folding. Mutations in exon 9 of the CALR gene are the second most common genetic cause of myeloproliferative neoplasms.
Mifra Faiz+2 more
wiley +1 more source
ABSTRACT Lateral root (LR) organogenesis is regulated by cellular flux of auxin within pericycle cells, which depends on the membrane distribution and polar localization of auxin carrier proteins. The correct distribution of auxin carrier proteins relies on the intracellular trafficking of these proteins aided by filamentous actin as a track.
Aya Hanzawa+2 more
wiley +1 more source
ABSTRACT Introduction Thyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and DICER1 mutations. Fewer than 15 well‐characterized cases have been reported, with limited cytological descriptions.
R. Razack+7 more
wiley +1 more source
Identification of novel genes regulating the development of the palate
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias [PDF]
<i>MAMLD1</i> is a causative gene for disorders of sex development. Several <i>MAMLD1</i> mutations have been shown to cause hypospadias by generating dysfunctional proteins and/or unstable mRNAs. Here, we identified an intronic mutation of <i>MAMLD1</i> (g.IVS4−2A>G) in 1 of 180 hypospadias patients.
Maki Igarashi+11 more
openaire +2 more sources
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Identification of an ancient haemophilia A splice site mutation
Thrombosis Research, 2012To date, numerous mutations resulting in haemophilia A are known and recorded at HAMSTeRS. We identified a new splice site mutation in intron 6 of the F8 gene (T to G transition at position -14; c.788-14T>G) in seven not knowingly related patients, who all suffer from mild haemophilia A. RNA analysis of blood cells indicated that this mutation leads to
Arndt von Haeseler+6 more
openaire +4 more sources
A splice-site mutation causing ovine McArdle's disease
Neuromuscular Disorders, 1997McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme muscle glycogen phosphorylase which releases glucose for contraction during exercise. The human cDNA has been sequenced and disease-causing mutations identified.
C. R. Huxtable+6 more
openaire +3 more sources