Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Effect of coating concentration and combined osmotic and hot-air dehydration on some physico-chemical, textural and sensory properties of apple slabs [PDF]
In a 120 min osmotic dehydration procedure followed by an air drying process, the effect of carboxy-methyl cellulose (CMC) on some qualitative characteristics of apple slabs including browning index (BI) and rehydration capacity were studied.
Fathi, M., Sajjadi, A.L., Taghizadeh, M.
core +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Carbonic anhydrase 2 mediates anti-obesity effects of black tea as thermogenic activator
Obesity is a metabolic disorder due to over-accumulation of adipose tissue and ultimately becomes a “disease”. Brown adipose tissue (BAT) thermogenesis and white adipose tissue (WAT) browning emerge as a potential strategy of anti-obesity by dissipating ...
Peng Ma +14 more
doaj +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Endogenous levels of reducing sugars, free amino acids and phenols during various stages of in vitro culture of cotton (Gossypium Spp.) [PDF]
Somatic embryogenesis is widely preferred as the regeneration route for in vitro studies in cotton. However, the regeneration efficiency through this approach is low; a problem that is believed to be as a result of the biochemical properties of the ...
Obembe, Olawole O.
core
Melanosis inhibition and SO2 residual levels in shrimps (Parapenaeus longirostris) after different sulfite-based treatments [PDF]
The effectiveness of different sulfite-based treatments to prevent melanosis in fresh deepwater pink shrimp (Parapenaeus longirostris) was evaluated.
Gómez Guillén, M. C. +3 more
core +1 more source
Anti-browning methods on fresh-cut fruits and fruit juice: A Review
يعد التحمير الأنزيمي اضطرابًا مهمًا اقتصاديًا يؤدي إلى تدهور الخصائص الحسية، ويمنع المستهلك من شراء الفواكه والخضروات الطازجة. إن الوقاية من التحمير الأنزيمي والسيطرة عليه في منتجات الفواكه الطازجة أمر حتمي. وقد أدى ذلك إلى إجراء دراسات مكثفة واستكشاف العديد من المنهجيات ذات النتائج الإيجابية. ومع ذلك، أدت المخاوف بشأن الروائح الكريهة وسلامة الطعام إلى
openaire +1 more source
The jasmine (Jasminum sambac (L.) Aiton) flower has delicate petals, resulting in rapid browning after harvest. The aim of this study was to search for an innovative postharvest treatment for delaying browning of jasmine petals using plant essential oils.
Kittiya Yeamsuriyotai +7 more
doaj +1 more source
Rheumatologic Manifestations of Patients With Type B Insulin Resistance
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya +4 more
wiley +1 more source

