Maternally inherited autosomal dominant PLAG-1 related Silver Russell Syndrome in a fetus with intra-uterine growth restriction.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6364
Abstract: We report a case of maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an… read more here.
Keywords: maternally inherited; silver russell; inherited autosomal; growth ... See more keywords
Bilateral chorea–ballism and diabetic ketoacidosis as the initial presentation of a case with maternally inherited diabetes and deafness
Sign Up to like & getrecommendations! Published in 2017 at "Acta Diabetologica"
DOI: 10.1007/s00592-017-0982-1
Abstract: Maternally Inherited Diabetes and Deafness (MIDD) is a rare diabetic syndrome mainly caused by mitochondrial A3243[G point mutation. Common clinical manifestations include diabetes mellitus (DM), deafness, short stature, ophthalmic disease, myopathy, cardiac disorders, renal disease… read more here.
Keywords: maternally inherited; bilateral chorea; diabetes deafness; chorea ballism ... See more keywords
Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.03.005
Abstract: Purpose: To investigate the prognostic value of demographic, functional, and imaging parameters on retinal pigment epithelium (RPE) atrophy progression secondary to Maternally Inherited Diabetes and Deafness (MIDD) and to evaluate the application of these factors… read more here.
Keywords: secondary maternally; maternally inherited; rpe atrophy; size ... See more keywords
Neurodevelopment vs. the immune system: Complementary contributions of maternally-inherited gene transcripts and proteins to successful embryonic development in fish.
Sign Up to like & getrecommendations! Published in 2021 at "Genomics"
DOI: 10.1016/j.ygeno.2021.09.003
Abstract: The aim of this study was to investigate the respective contribution of maternally-inherited mRNAs and proteins to egg molecular cargo and to its developmental competence in fish using pikeperch as a model. Our study provides… read more here.
Keywords: neurodevelopment immune; maternally inherited; embryonic development; transcripts proteins ... See more keywords
The usefulness of maternally inherited genetic markers for phylogeographic studies in village chicken.
Sign Up to like & getrecommendations! Published in 2022 at "Animal biotechnology"
DOI: 10.1080/10495398.2021.2000429
Abstract: Phylogeography plays a major role in understanding micro and macroevolutionary processes dealing with evolutionary interpretations of geographical distribution. This field integrates information from molecular genetics, population genetics, demography, and phylogeny for the interpretation of the… read more here.
Keywords: genetic markers; markers phylogeographic; inherited genetic; full mtdna ... See more keywords
Evolutionary changes in symbiont community structure in ticks
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Ecology"
DOI: 10.1111/mec.14094
Abstract: Ecological specialization to restricted diet niches is driven by obligate, and often maternally inherited, symbionts in many arthropod lineages. These heritable symbionts typically form evolutionarily stable associations with arthropods that can last for millions of… read more here.
Keywords: maternally inherited; community structure; tick species; structure ... See more keywords
Genetic Modification of Sodalis Species by DNA Transduction
Sign Up to like & getrecommendations! Published in 2021 at "mSphere"
DOI: 10.1128/msphere.01331-20
Abstract: A large number of economically important insects maintain intimate associations with maternally inherited endosymbiotic bacteria. Due to the inherent nature of these associations, insect endosymbionts cannot be usually isolated in pure culture or genetically manipulated.… read more here.
Keywords: sodalis; number; insects; maternally inherited ... See more keywords
Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Diabetes Research"
DOI: 10.1155/2020/2057187
Abstract: We report here the clinical, genetic, and molecular characteristics of type 2 diabetes in a Chinese family. There are differences in the severity and age of onset in diabetes among these families. By molecular analysis… read more here.
Keywords: maternally inherited; mitochondrial trnathr; inherited diabetes; 15897g mutation ... See more keywords
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene
Sign Up to like & getrecommendations! Published in 2017 at "Cytogenetic and Genome Research"
DOI: 10.1159/000480030
Abstract: Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial… read more here.
Keywords: maternally inherited; angelman syndrome; deletion; ube3a gene ... See more keywords
Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation
Sign Up to like & getrecommendations! Published in 2019 at "BMC Cardiovascular Disorders"
DOI: 10.1186/s12872-019-01284-4
Abstract: BackgroundCoronary heart disease (CHD) is the most common cause of mortality globally, yet mitochondrial genetic mutations associated with CHD development remain incompletely understood.MethodsThe subjects from three Chinese families with LHON underwent clinical, genetic, molecular, and… read more here.
Keywords: maternally inherited; heart disease; disease; chd ... See more keywords
Mitochondrial mutations in maternally inherited hearing loss
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genetics"
DOI: 10.1186/s12881-017-0389-4
Abstract: BackgroundAlthough the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL.MethodsScreening of m.1555A > G and… read more here.
Keywords: hearing loss; maternally inherited; snhl; mtdna mutations ... See more keywords