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| http://dx.doi.org/10.1186/s12877-022-03023-5 | DOI Listing |
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Correction: MKRN1 promotes colorectal cancer metastasis by activating the TGF-β signalling pathway through SNIP1 protein degradation.
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Impact of Chorionicity in Neurodevelopmental Outcomes in Preterm Twins.
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Neonatology Department, Maternidade Bissaya Barreto, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Introduction Multifetal pregnancies, which account for 2-4% of births worldwide, have increased in recent years. Twin pregnancies carry a higher risk of preterm birth and associated neonatal morbimortality, with monochorionic twins considered at greater risk. This study investigates the influence of chorionicity on neurodevelopmental outcomes in preterm twins.
View Article and Find Full Text PDF[Research progresses in gene therapy for hepatolenticular degeneration].
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January 2025
Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei230032, China Anhui Provincial Institute of Translational Medicine, Hefei230032, China.
Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.
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[This corrects the article DOI: 10.3389/fendo.2024.
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Background: Unilateral pulmonary artery discontinuity (UPAD) is a rare fetal abnormality, for which a prenatal ultrasonographic diagnosis remains challenging. We report a case of left pulmonary artery discontinuity in association with Taussig-Bing syndrome, which has rarely been reported in the literature thus far.
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