Results 61 to 70 of about 1,899,712 (390)
Indian Dermatology Online Journal, 2014 Congenital candidiasis (CC) is a rare disease with less than 100 cases being reported in the literature. It presents within six days of life with manifestations ranging from localized skin disease to systemic involvement in the form of respiratory distress, sepsis, and death.
Chintaginjala Aruna +1 more
openaire +3 more sources
Homologous expression and purification of human HAX‐1 for structural studies
FEBS Open Bio, EarlyView.This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley +1 more source
Possible role of TORCH agents in congenital malformations in Gorgan, northern Islamic Republic of Iran [PDF]
, 2009 This descriptive, cross-sectional study was carried out to explore the frequency of contamination with TORCH agents in neonates with congenital malformations in a referral centre in Gorgan city, Islamic Republic of Iran.
Ghaemi, E. +2 more
core +1 more source
Molecular determinants of signal transduction in tropomyosin receptor kinases
FEBS Open Bio, EarlyView.Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley +1 more source
Indian Pacing and Electrophysiology JournalSupraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly within the first year of life, where prompt and effective management is crucial.
Giovanni Domenico Ciriello +13 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundThere is a paucity of data regarding late‐onset pulmonary hypertension (PH) in patients with transposition of the great arteries and atrial switch surgery.
Marie‐A. Chaix +11 more
doaj +1 more source
Bilateral microform cleft lip [PDF]
, 2006 Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a
Attard Montalto, Simon +2 more
core
European Spine Journal, 2003 Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord,
M. Aebi, Th. Odent, V. Arlet
openaire +3 more sources
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
RNA sequencing of archived neonatal dried blood spots
Molecular Genetics and Metabolism Reports, 2017 Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °
Jonas Bybjerg-Grauholm +8 more
doaj +1 more source