Results 201 to 210 of about 73,318 (285)
TLR2 variants and <i>Helicobacter pylori</i>: revisiting a controversial link. [PDF]
Kirkik D, Demircioglu S, Taş SK.
europepmc +1 more source
Repeated Episodes of GPP Induced by Respiratory Infections Are Mediated by Loss‐of‐Function IFIH1
ABSTRACT Background Generalized pustular psoriasis (GPP) is a severe and recurrent autoinflammatory disease that can be induced by a variety of factors. At present, its etiology and pathogenesis have not yet been fully elucidated. Upper respiratory tract infections are the main predisposing factor in children with GPP, and the MDA5 protein encoded by ...
Yaqin Liu +5 more
wiley +1 more source
qPH<sub>1.01</sub>, a dominant QTL that contributes to plant height and ear height in maize. [PDF]
Chen C +8 more
europepmc +1 more source
Uncovering the role of genetic polymorphisms in cervical insufficiency
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi +3 more
wiley +1 more source
A novel variation in <i>RSPO4</i> causing nonsyndromic congenital nail disorder-4 in a Chinese patient. [PDF]
Zhang Q, Yang Q, Zhou X, Zhang S, Luo J.
europepmc +1 more source
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen +7 more
wiley +1 more source
The role of ABCB1 and CES1 genotypes on the efficacy and safety of dabigatran: a systematic review and meta-analysis. [PDF]
Aldiban W +9 more
europepmc +1 more source
Schematic overview of the study examining the association between the ASTN2 rs7858836 T allele and postoperative pain–related phenotypes in humans. The analysis focuses on the relationship between this genetic variant and postoperative pain intensity as well as analgesic responses.
Rie Inoue +9 more
wiley +1 more source
Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants. [PDF]
Sakamoto S +23 more
europepmc +1 more source
ABSTRACT Introduction The neurodevelopmental outcome of ‘Cystic’ malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a major issue. This study aimed to refine relevant MRI criteria for distinguishing DWM from BPC and identify prognostic factors.
Léa Schieffer +11 more
wiley +1 more source

