Results 151 to 160 of about 7,759 (229)
The maize BTB/POZ‐MATH (BPM) protein ZmBPM1 interacts with autophagy‐related protein ZmATG6 to relocate the NLR protein Rp1‐D21 from the nucleo‐cytoplasmic compartment into autophagosome‐like puncta, leading to autophagy‐mediated turnover and suppressing the hypersensitive response.
Chang‐Xiao Tang +8 more
wiley +1 more source
In a nutshell: Pandora's Box-B-cell lymphoproliferation masking inborn errors of immunity. [PDF]
Sánchez-Ramón S, Bussel JB.
europepmc +1 more source
Inflammation and Oxidative Damage in Fatty Acids Oxidation Disorders
ABSTRACT Deficiencies in enzymes and transporters involved in mitochondrial fatty acid beta oxidation results in the accumulation of fatty acids, a condition known as fatty acid oxidation disorders (FAODs). Therefore, the present study aimed to evaluate the oxidative and inflammatory profiles of treated patients with FAODs, comparing those receiving ...
Stefani Altenhofen +11 more
wiley +1 more source
ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to MDS.
Aziz Eghbali +2 more
wiley +1 more source
Rare vasculitis types and obstetric and neonatal outcomes – A population‐based study
Abstract Objective Vasculitis is an infrequent pathology among reproductive‐aged women. While data exists regarding pregnancy outcomes in the more common vasculitis subtypes, data is limited regarding these outcomes in rare vasculitis subtypes. We aimed to compare pregnancy and perinatal outcomes between women who suffered from rare types of vasculitis
Uri Amikam +4 more
wiley +1 more source
Betaine helps to restore the dysfunctional communication between oxidative stress and inflammation, and it also improves demyelination in cuprizone‐induced demyelinating disease within the cerebral cortex. ABSTRACT Cortical grey matter pathology manifests early demyelinating diseases and is a primary driver of permanent neurological impairment.
Yara M. Said +4 more
wiley +1 more source
Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno +3 more
wiley +1 more source
Nucleic Acid Therapeutics in Rare Disease: From Precision Medicine to Programmable Platforms
ABSTRACT Nucleic acid therapeutics (NATs), including antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), messenger RNA (mRNA) therapeutics and programmable editing technologies, are reshaping the therapeutic landscape for inherited metabolic and genetic disease.
Tomasz Z. Tomkiewicz +3 more
wiley +1 more source
Hypocortisolaemia with gastrointestinal haemorrhage in a young cat
Abstract An 8‐month‐old, female, spayed domestic shorthair presented with a 1‐week history of lethargy and anorexia. On admission, the cat had severe hypoglycaemia, and hypovolaemic and distributive shock were suspected. Mucosal defects identified by ultrasonography were suggestive of gastrointestinal ulceration.
Victoria J. Skinner +2 more
wiley +1 more source
Genome Aging in Women: Hematopoietic Loss of X Chromosome as An Exemplar
As studies at the intersection of genetics and aging are rapidly advancing, genome aging provides a novel mechanism by which aging phenotypes occur. In this Review, the authors examine the rise, expansion, and the consequences of X chromosome loss in female blood cells.
Xihan Guo, Xueqin Dai
wiley +1 more source

