|
Coronary heart disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using the KID national database collected from 2003 to 2012, we studied over 180,000 IDM to compare the prevalence of CHD according to family income and race/ethnicity.
|
31842654 |
2019 |
|
Congenital deafness
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in Cx genes (particularly <i>GJB2</i>, which encodes Cx26) cause approximately half of all cases of congenital hearing loss in newborns.
|
31827424 |
2019 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study aimed to investigate <i>GJB2</i> (connexin 26) and <i>GJB6</i> (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon.
|
31731535 |
2019 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana.
|
31620164 |
2019 |
|
Congenital cataract
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Confocal microscopy revealed the accumulation of both mutant connexins in the cytoplasm with punctate staining and a failure of gap junction formation between adjacent cells.<b>Conclusions</b>: Two novel G22S mutations of Cx46 and Cx50 were identified, and preliminary functional analysis revealed a potential deleterious effect of these mutations due to the malfunction of connexins.<b>Abbreviations:</b> ADCC: autosomal dominant congenital cataract; Cx26: connexin26; Cx32: connexin32; Cx46: connexin46; Cx46WT: wild-type connexin46; Cx50: Connexin50; Cx50WT: wild-type connexin50; DAPI: 4',6-diamidino-2-phenylindole; EGFP: enhanced green fluorescent protein; FBS: fetal bovine serum; <i>GJA-</i>:gap junction alpha-; PCR: polymerase chain reaction; PolyPhen: polymorphism phenotyping; PSIC: position-specific independent count; RPMI: Roswell Park Memorial Institute; TM1: first transmembrane.
|
31618082 |
2019 |
|
Inherited hearing loss
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here within, we study the spatial organization of a large DFNB1 locus encompassing the gap junction protein beta 2 (GJB2) gene, the most frequently mutated gene in this inherited hearing loss phenotype, with the chromosome conformation capture carbon copy technology (5C).
|
31586237 |
2019 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hence, recurrent monoallelic cases, who present the most common hereditary type of nonsyndromic hearing loss (i.e., DFNB1), carry only one identified pathogenic allele.
|
31586237 |
2019 |
|
Congenital deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.
|
31564438 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Nanoscale bubble delivered YCD-TK/Cx26 gene therapeutic system efficiently reduced BIU-87 cell proliferation in vitro, and suppressed tumor growth by inducing necrosis of tumor tissues in mouse Xenograft bladder cancer models.
|
31539120 |
2019 |
|
Malignant neoplasm of urinary bladder
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Nanoscale bubble delivered YCD-TK/Cx26 expression significantly reduced the necrosis of tumor tissues in mouse Xenograft bladder cancer model compared to LV5-YCD-TK group and 5-FC+GCV group (p<0.05).
|
31539120 |
2019 |
|
Bladder Neoplasm
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Nanoscale bubble delivered YCD-TK/Cx26 expression significantly reduced the necrosis of tumor tissues in mouse Xenograft bladder cancer model compared to LV5-YCD-TK group and 5-FC+GCV group (p<0.05).
|
31539120 |
2019 |
|
Carcinoma of bladder
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Nanoscale bubble delivered YCD-TK/Cx26 expression significantly reduced the necrosis of tumor tissues in mouse Xenograft bladder cancer model compared to LV5-YCD-TK group and 5-FC+GCV group (p<0.05).
|
31539120 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Following the establishment of an in vitro hypoxia model, P53/murine double minute‑2 (MDM2) signaling pathway‑, proliferation‑ and epithelial‑mesenchymal transition (EMT)‑related genes were quantified to evaluate the influence of CX26 and CX43 on the biological functions of pulmonary epithelial cells in NSCLC.
|
31485592 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
|
31472357 |
2019 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
|
31472357 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic hearing impairment with skin problems.
|
31419744 |
2019 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A dominant GJB2 mutation, c.389G > T (p.G130V), has been reported previously in association with hearing impairment and palmoplantar keratoderm.
|
31419744 |
2019 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here we report the first de novo G130V mutation of GJB2 gene in a sporadic case of hearing loss in a consanguineous Iranian family which is not associated with skin disorder.
|
31419744 |
2019 |
|
Congenital deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations.
|
31415960 |
2019 |
|
Nodular Sclerosis Classical Hodgkin Lymphoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 40 school-aged children with NSHL was initially screened for variants in GJB2, the gene with the highest incidence of variants in other populations with NSHL.
|
31389194 |
2019 |
|
Congenital diaphragmatic hernia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Neonatal surgery in low- vs. high-volume institutions: a KID inpatient database outcomes and cost study after repair of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis.
|
31372730 |
2019 |
|
Hyperactive behavior
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Recently, a human-derived monoclonal antibody named abEC1.1 has been shown to inhibit both wild type and hyperactive hemichannels composed of human (h) connexin 26 (hCx26) subunits.
|
31263420 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study were to clarify the predominant factors determining hearing outcome and to establish a predictive model for SNHI in patients with GJB2 mutations.
|
31246659 |
2020 |
|
Inflammatory Bowel Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
To analyse IBD-KID participant response patterns in order to review the strength of the tool.
|
31243856 |
2020 |
|
Irritable Bowel Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Response pattern analysis of IBD-KID: A knowledge assessment tool for children with inflammatory bowel disease.
|
31243856 |
2020 |