However, at the level of the individual, this mechanism can result in simultaneous expression of deleterious variants as well as reduced activity of a variety of Hsp90 chaperoned pathways and potentially shift phenotypic variability over the disease threshold resulting in birth defects.
Mutations in the key transcription factor, SOX2, alone account for 20% of anophthalmia (no eye) and microphthalmia (small eye) birth defects in humans - yet its regulation is not well understood, especially on the post-transcription level.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of common birth defects in China, with genetic and environmental components contributing to the etiology.
These results indicate that among the entire cohort of children conceived from ART and among the children conceived from FET, the risk for birth defects after ICSI is similar to that after IVF.Abbreviations: IVF: in vitro fertilization; ICSI: intracytoplasmic sperm injection; FET: frozen embryo transfer; ART: assisted reproductive technology; ET: embryo transfer; BMI: body mass index; OHSS: ovarian hyperstimulation syndrome; CMOH: Chinese Ministry of Health; ICD-10: International Classification of Diseases, 10<sup>th</sup> edition; PTB: preterm birth; OR: odds ratio; aOR: adjusted odds ratio; CI: confidence interval.
These results indicate that among the entire cohort of children conceived from ART and among the children conceived from FET, the risk for birth defects after ICSI is similar to that after IVF.Abbreviations: IVF: in vitro fertilization; ICSI: intracytoplasmic sperm injection; FET: frozen embryo transfer; ART: assisted reproductive technology; ET: embryo transfer; BMI: body mass index; OHSS: ovarian hyperstimulation syndrome; CMOH: Chinese Ministry of Health; ICD-10: International Classification of Diseases, 10<sup>th</sup> edition; PTB: preterm birth; OR: odds ratio; aOR: adjusted odds ratio; CI: confidence interval.
PBX1 is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterised by multiple congenital defects including congenital heart disease.
Thus, BMP7 functions predominantly as a heterodimer with BMP2 or BMP4 during mammalian development, which may explain why mutations in either <i>Bmp4</i> or <i>Bmp7</i> lead to a similar spectrum of congenital defects in humans.
The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS.
Thus, BMP7 functions predominantly as a heterodimer with BMP2 or BMP4 during mammalian development, which may explain why mutations in either <i>Bmp4</i> or <i>Bmp7</i> lead to a similar spectrum of congenital defects in humans.
Using Ick-mutant mice, we investigated the mechanisms by which ICK function loss causes cleft palate and examined pharmacological rescue of the congenital defects.
Consistent with the hypothesis that these defects are caused by deficient Shh, we found that CBs reduced Shh signaling by inhibiting Smoothened (Smo), while Shh mRNA or a CB1 receptor antagonist attenuated CB-induced birth defects.
SMOC1 and SMOC2 are critical regulators of many cell biological processes and potential therapeutic targets for the control of human cancers and birth defects.
This study establishes an essential role for HNRNPR in human development and points to a mechanism that may unify other "spliceosomopathies" linked to variants that drive multi-system congenital defects and are found in hnRNPs.
SMOC1 and SMOC2 are critical regulators of many cell biological processes and potential therapeutic targets for the control of human cancers and birth defects.
In secondary erythrocytosis, the elevated red cell count is powered by factors outside the erythroid compartment, for instance by raised erythropoietin (EPO) synthesis based on congenital defects of the oxygen-sensing pathway.
We next used data collected between Jan 1st 2018 and Apr 30th 2018, encompassing 12,371 live births, to calculate the SGA and LGA ratios using birth weight references in Australia, South Korea and China (based on birth defects surveillance system) and birth weight percentiles calculated in this study.
The Benetech PRA software package is used to convert maternal serum analyte concentrations to multiples of the median (MoM) and calculates the risks of particular birth defects.
Our observation that the impact of genetic variants on NSCL/P risk differs for males and females may further our understanding of the genetic architecture of NSCL/P and the sex differences underlying clefts and other birth defects.
Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common human birth defects, it results from multiple genetic and environmental risk factors.
No significant association was observed between the number of oocytes retrieved (continuous variable) and PTB (adjusted odds ratio [AOR] 1.002, 95% CI 0.994-1.011), very PTB (AOR 1.013, 95% CI 0.994-1.032), SGA (AOR 0.998, 95% CI 0.988-1.009), peri/neonatal death (AOR 1.008, 95% CI 0.975-1.043) or major birth defects (AOR 1.009, 95% CI 0.998-1.020).
The expression of PCFT in placentas from BD-complicated pregnancies is increased, possibly as an adaptive response to increase the folate flux at the maternal-fetal interface.