Mitochondrial deoxyguanosine kinase is required for female fertility in mice
In this study, we find that Dguok knockout results in female infertility. Mechanistically, DGUOK deficiency hinders ovarian development and oocyte maturation. Moreover, DGUOK deficiency in oocytes causes a significant reduction in mitochondrial DNA copy number and abnormal mitochondrial dynamics and impairs germinal vesicle breakdown. Only few DGUOK-deficient oocytes can extrude their first polar body during in vitro maturation, and these oocytes exhibit irregular chromosome arrangements and different spindle lengths. In addition, DGUOK deficiency elevates reactive oxygen species levels and accelerates oocyte apoptosis. Ou...
Source: Acta Biochimica et Biophysica Sinica - February 8, 2024 Category: Biochemistry Authors: Yake Gao Rui Dong Jiacong Yan Huicheng Chen Lei Sang Xinyi Yao Die Fan Xin Wang Xiaoyuan Zuo Xu Zhang Shengyu Yang Ze Wu Jianwei Sun Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype
CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research
Mitochondrial deoxyguanosine kinase is required for female fertility in mice
In this study, we find that Dguok knockout results in female infertility. Mechanistically, DGUOK deficiency hinders ovarian development and oocyte maturation. Moreover, DGUOK deficiency in oocytes causes a significant reduction in mitochondrial DNA copy number and abnormal mitochondrial dynamics and impairs germinal vesicle breakdown. Only few DGUOK-deficient oocytes can extrude their first polar body during in vitro maturation, and these oocytes exhibit irregular chromosome arrangements and different spindle lengths. In addition, DGUOK deficiency elevates reactive oxygen species levels and accelerates oocyte apoptosis. Ou...
Source: Acta Biochimica et Biophysica Sinica - February 8, 2024 Category: Biochemistry Authors: Yake Gao Rui Dong Jiacong Yan Huicheng Chen Lei Sang Xinyi Yao Die Fan Xin Wang Xiaoyuan Zuo Xu Zhang Shengyu Yang Ze Wu Jianwei Sun Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype
CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research
Mitochondrial deoxyguanosine kinase is required for female fertility in mice
In this study, we find that Dguok knockout results in female infertility. Mechanistically, DGUOK deficiency hinders ovarian development and oocyte maturation. Moreover, DGUOK deficiency in oocytes causes a significant reduction in mitochondrial DNA copy number and abnormal mitochondrial dynamics and impairs germinal vesicle breakdown. Only few DGUOK-deficient oocytes can extrude their first polar body during in vitro maturation, and these oocytes exhibit irregular chromosome arrangements and different spindle lengths. In addition, DGUOK deficiency elevates reactive oxygen species levels and accelerates oocyte apoptosis. Ou...
Source: Acta Biochimica et Biophysica Sinica - February 8, 2024 Category: Biochemistry Authors: Yake Gao Rui Dong Jiacong Yan Huicheng Chen Lei Sang Xinyi Yao Die Fan Xin Wang Xiaoyuan Zuo Xu Zhang Shengyu Yang Ze Wu Jianwei Sun Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype
CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype
CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case –control study
ConclusionMicrodeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men (p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigeneti c changes explain the role of AZF microdeletions in RPL. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 7, 2024 Category: Genetics & Stem Cells Authors: Nasrin Pazoki,
Mitra Salehi,
Seyed Abdolhamid Angaji,
Meghdad Abdollahpour ‐Alitappeh Tags: ORIGINAL ARTICLE Source Type: research
FTO overexpression inhibits the invasion and migration of rheumatoid arthritis fibroblast ‐like synoviocytes by suppressing miR‐126‐5p
ConclusionFTO overexpression curtailed miR-126-5p by diminishing the m6A modification level of pri-miR-126-5p, subsequently enhancing FOXO3 expression and restraining the invasion and migration of RA-FLSs. (Source: International Journal of Rheumatic Diseases)
Source: International Journal of Rheumatic Diseases - February 7, 2024 Category: Rheumatology Authors: Yuxia Cai,
Ling Wang,
Yueling Zheng Tags: ORIGINAL ARTICLE Source Type: research
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
ConclusionIn this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of genePTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum ofPTHLH in BDE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2024 Category: Genetics & Stem Cells Authors: Jian Sun,
Nian Yang,
Zhengquan Xu,
Hongbo Cheng,
Xiangxin Zhang Tags: ORIGINAL ARTICLE Source Type: research
Genes, Vol. 15, Pages 211: Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
l-da-Silva-Lopes
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil’s Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene...
Source: Genes - February 6, 2024 Category: Genetics & Stem Cells Authors: Henrique Garcia Silveira Carlos Eduardo Steiner Giovana Toccoli Luise Longo Angeloni J úlia Lôndero Heleno Samira Spineli-Silva Ana Mondadori dos Santos T ársis Paiva Vieira Maria Isabel Melaragno Vera L úcia Gil-da-Silva-Lopes Tags: Article Source Type: research
Genes, Vol. 15, Pages 207: A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects
ihaela Mihu
Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10–15% of all CHD can be attributed to copy number variations (CNVs), a type of submicroscopic structural genetic alterations. The aim of this study was to evaluate the involvement of CNVs in the development of congenital heart defects. We performed a cohort study investigating the presence of CNVs in the 22q11.2 region and GATA4, TBX5, NKX2-5, BMP4, and CRELD1 genes in patients with syndromic and iso...
Source: Genes - February 5, 2024 Category: Genetics & Stem Cells Authors: Alexandru Cristian Bolundu ț Florina Nazarie Cecilia Lazea Crina Șufană Diana Miclea C ălin Lazăr Carmen Mihaela Mihu Tags: Article Source Type: research
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study
ConclusionHypoparathyroidism, hypothyroidism, and obesity are common endocrine manifestations in patients with 22q11DS but are probably underdiagnosed and undertreated, indicating the need for multidisciplinary follow-up including an endocrinologist. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - February 3, 2024 Category: Endocrinology Source Type: research
Utilization of Hospital Resources Associated with Infections in Chromosome 22q11.2 Deletion Syndrome in the United States
Chromosome 22q11.2 deletion syndrome is a congenital disorder with a broad phenotypic presentation known to be caused by developmental defects of third and fourth pharyngeal pouches during embryogenesis. Due to the broad phenotypic presentation and underlying complexities, clinical practice guidelines have been established to help in evaluation of these patients to help guide labs, images& procedures. Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Esosa Adah, Nikita Raje, Janelle Noel-Macdonnell Source Type: research
Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2
Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial appearance, and other variable clinical features. KLEFS is subdivided into two subtypes: Kleefstra syndrome-1 (KLEFS1, OMIM: 610253), caused by a heterozygous microdeletion encompassing the Euchromatic Histone Lysine Methyltransferase 1 (EHMT1) gene on chromosome 9q34.3 or pathogenic variants in the EHMT1 gene, and Kleefstra syndrome-2 (KLEFS2, OMIM: 617768), caused by pathogenic variants in the KMT2C gene. More than 100 cases o...
Source: Frontiers in Neurology - January 31, 2024 Category: Neurology Source Type: research
