Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/hmg/4.4.583 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
3,6-Anhydro-L-galactose suppresses mouse lymphocyte proliferation by attenuating JAK-STAT growth factor signal transduction and G-S cell cycle progression.
Int Immunopharmacol
January 2025
AT-31 BIO Inc., 403 Business Incubation Center, Kyungpook National University, 80 Daehak-ro, Buk-gu, Daegu 41566, Republic of Korea; Laboratory of Immunobiology, School of Life Science and Biotechnology, College of Natural Sciences, Kyungpook National University, 80 Daehak-ro, Buk-gu, Daegu 41566, Republic of Korea. Electronic address:
Recombinant GH16B β-agarase-catalyzed liquefaction of 5-7 %(w/v) melted agarose at 50 °C completely hydrolyzed agarose into neoagarohexaose (NA6) and neoagarotetraose (NA4). Subsequent saccharification by recombinant GH50A β-agarase or recombinant GH50A β-agarase/recombinant GH117A α-neoagarobiose hydrolase at 35 °C converted NA6/NA4 into neoagarobiose (NA2) or 3,6-anhydro-L-galactose (L-AHG)/D-galactose, respectively. Purification of NA6/NA4 and NA2 was achieved by Sephadex G-15 column chromatography, while L-AHG was purified by Sephadex G-10, achieving ≥ 98 % purity.
View Article and Find Full Text PDFWhiA transcription factor provides feedback loop between translation and energy production in a genome-reduced bacterium.
Front Microbiol
December 2024
Scientific Research Institute of Systems Biology and Medicine, Moscow, Russia.
Introduction: WhiA is a conserved protein found in numerous bacteria. It consists of an HTH DNA-binding domain linked with a homing endonuclease (HEN) domain. WhiA is one of the most conserved transcription factors in reduced bacteria of the class Mollicutes.
View Article and Find Full Text PDFA MACPF Protein OsCAD1 Balances Plant Growth and Immunity Through Regulating Salicylic Acid Homeostasis in Rice.
Plant Cell Environ
January 2025
State Key Laboratory of Rice Biology and Breeding, Key Laboratory for Zhejiang Super Rice Research, China National Center for Rice Improvement, China National Rice Research Institute, Hangzhou, Zhejiang, China.
Unraveling the mechanisms behind plant growth and immunity contributes to effective crop improvement. Membrane attack complex/perforin (MACPF) domain proteins play vital roles in innate and adaptive immunity in vertebrates; however, their molecular functions in plants remain largely unexplored. Here, we isolated and characterized a rice mutant, Oryza sativa constitutively activated cell death 1 (oscad1), which exhibited a lesion mimic phenotype and growth inhibition with increased cell death, elevated ROS accumulation, and enhanced resistance to bacterial blight Xanthomonas oryzae pv.
View Article and Find Full Text PDFMaternal milk fat globule membrane enriched gut and circulating SCFAs to improve placental efficiency and fetal development in intrauterine growth restricted mice model.
Gut Microbes
December 2025
Department of Obstetrics and Gynecology and Reproductive Medicine, Peking University First Hospital, Beijing, China.
Intrauterine growth restriction (IUGR) caused by placental dysfunctions leads to fetal growth defects. Maternal microbiome and its metabolites have been reported to promote placental development. Milk fat globule membrane (MFGM) is known for its diverse bioactive functions, while the effects of gestational MFGM supplementation on the maternal gut microbiota, placental efficiency, and fetal development remained unclear.
View Article and Find Full Text PDFMelatonin ameliorates -associated chondrodysplasias by attenuating endoplasmic reticulum stress and apoptosis of chondrocytes.
Genes Dis
March 2025
Pediatric Orthopaedic Hospital, Honghui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi 710032, China.
Although the pathogenesis and mechanism of congenital skeletal dysplasia are better understood, progress in drug development and intervention research remains limited. Here we report that melatonin treatment elicits a mitigating effect on skeletal abnormalities caused by deficiency. In addition to our previous finding of endoplasmic reticulum stress upon deficiency, we found calcium (Ca) overload jointly contributed to -associated chondrodysplasias.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!