keyword
https://read.qxmd.com/read/37882530/the-power-of-the-heterogeneous-stock-rat-founder-strains-in-modeling-metabolic-disease
#21
JOURNAL ARTICLE
Valerie A Wagner, Katie L Holl, Karen C Clark, John J Reho, Hans-Joachim Lehmler, Kai Wang, Justin L Grobe, Melinda R Dwinell, Hershel Raff, Anne E Kwitek
Metabolic diseases are a host of complex conditions, including obesity, diabetes mellitus, and metabolic syndrome. Endocrine control systems (eg, adrenals, thyroid, gonads) are causally linked to metabolic health outcomes. N/NIH Heterogeneous Stock (HS) rats are a genetically heterogeneous outbred population developed for genetic studies of complex traits. Genetic mapping studies in adult HS rats identified loci associated with cardiometabolic risks, such as glucose intolerance, insulin resistance, and increased body mass index...
November 2, 2023: Endocrinology
https://read.qxmd.com/read/37792893/functional-dissection-and-assembly-of-a-small-newly-evolved-w-chromosome-specific-genomic-region-of-the-african-clawed-frog-xenopus-laevis
#22
JOURNAL ARTICLE
Caroline M S Cauret, Danielle C Jordan, Lindsey M Kukoly, Sarah R Burton, Emmanuela U Anele, Jacek M Kwiecien, Marie-Theres Gansauge, Sinthu Senthillmohan, Eli Greenbaum, Matthias Meyer, Marko E Horb, Ben J Evans
Genetic triggers for sex determination are frequently co-inherited with other linked genes that may also influence one or more sex-specific phenotypes. To better understand how sex-limited regions evolve and function, we studied a small W chromosome-specific region of the frog Xenopus laevis that contains only three genes (dm-w, scan-w, ccdc69-w) and that drives female differentiation. Using gene editing, we found that the sex-determining function of this region requires dm-w but that scan-w and ccdc69-w are not essential for viability, female development, or fertility...
October 2023: PLoS Genetics
https://read.qxmd.com/read/37789889/novel-variants-in-the-clcn4-gene-associated-with-syndromic-x-linked-intellectual-disability
#23
JOURNAL ARTICLE
Sinan Li, Wenxin Zhang, Piao Liang, Min Zhu, Bixia Zheng, Wei Zhou, Chunli Wang, Xiaoke Zhao
OBJECTIVE: The dysfunction of the CLCN4 gene can lead to X-linked intellectual disability and Raynaud-Claes syndrome (MRXSRC), characterized by severe cognitive impairment and mental disorders. This study aimed to investigate the genetic defects and clinical features of Chinese children with CLCN4 variants and explore the effect of mutant ClC-4 on the protein expression level and subcellular localization through in vitro experiments. METHODS: A total of 401 children with intellectual disabilities were screened for genetic variability using whole-exome sequencing (WES)...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37786676/mixed-representations-of-sound-and-action-in-the-auditory-midbrain
#24
G L Quass, M M Rogalla, A N Ford, P F Apostolides
UNLABELLED: Linking sensory input and its consequences is a fundamental brain operation. Accordingly, neural activity of neo-cortical and limbic systems often reflects dynamic combinations of sensory and behaviorally relevant variables, and these "mixed representations" are suggested to be important for perception, learning, and plasticity. However, the extent to which such integrative computations might occur in brain regions upstream of the forebrain is less clear. Here, we conduct cellular-resolution 2-photon Ca 2+ imaging in the superficial "shell" layers of the inferior colliculus (IC), as head-fixed mice of either sex perform a reward-based psychometric auditory task...
September 19, 2023: bioRxiv
https://read.qxmd.com/read/37761944/sex-differences-in-anderson-fabry-cardiomyopathy-clinical-genetic-and-imaging-analysis-in-women
#25
JOURNAL ARTICLE
Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Elvira Mariateresa Torrisi, Paolo Colomba, Giovanni Duro, Ines Paola Monte
Anderson-Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease's X-linked inheritance leads to more severe, early-onset presentations in males, while females exhibit variable, often insidious, manifestations, notably impacting cardiac health. This study aims to examine gender-based AFD cardiac manifestations in correlation with the variant type: classical (CL), late-onset (LO), or variants of uncertain significance (VUS)...
September 15, 2023: Genes
https://read.qxmd.com/read/37728963/the-australian-genetic-heart-disease-registry-protocol-for-a-data-linkage-study
#26
JOURNAL ARTICLE
Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting
BACKGROUND: Genetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain, and palpitations to heart failure and sudden cardiac death. These diseases are inherited in an autosomal dominant fashion, meaning family members of affected individuals have a 1 in 2 chance of also inheriting the disease ("at-risk relatives"). The health care use patterns of individuals with a genetic heart disease, including emergency department presentations and hospital admissions, are poorly understood...
September 20, 2023: JMIR Research Protocols
https://read.qxmd.com/read/37712293/rebalancing-polyamine-levels-to-treat-snyder-robinson-syndrome
#27
JOURNAL ARTICLE
Susan K Gilmour
Snyder-Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex-linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X-linked recessive pattern, SRS has only been identified in males thus far. Snyder-Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss-of-function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme...
September 15, 2023: EMBO Molecular Medicine
https://read.qxmd.com/read/37651241/clinical-profile-of-adult-hemophilia-patients-with-special-reference-to-fish-and-wfhpe-score-an-observational-cross-sectional-study
#28
JOURNAL ARTICLE
Minal Shastri, Renuka Vasava, Vaibhavi Pancholi, Vaishnavi M Rathod, Gaurav Mehta, Gayatri Laha, Darshankumar Manubhai Raval
BACKGROUND AND OBJECTIVES: Hemophilia is an X-linked recessive inherited disease affecting the coagulation pathway due to congenital deficiencies in either factor VIII (hemophilia A) or factor IX (hemophilia B). The clinical assessment of a patient's functional ability and the state of joint conditions is carried out by the clinicians by administering questionnaires namely the Gilbert or the World Federation of Hemophilia Physical Examination (WFH-PE) score for joint condition and Functional Independence Score in Hemophilia (FISH) for joint function...
August 2023: Journal of the Association of Physicians of India
https://read.qxmd.com/read/37635983/elevated-morbidity-and-mortality-in-patients-with-chronic-idiopathic-hypophosphatemia-a-nationwide-cohort-study
#29
JOURNAL ARTICLE
Kyoung Jin Kim, Ji Eun Song, Ji Hyun Kim, Namki Hong, Sin Gon Kim, Juneyoung Lee, Yumie Rhee
BACKGROUND: Chronic idiopathic hypophosphatemia (CIH) induced by X-linked hypophosphatemic rickets or tumor-induced osteomalacia is a rare inherited or acquired disorder. However, due to its rarity, little is known about the epidemiology and natural course of CIH. Therefore, we aimed to identify the prevalence and long-term health outcomes of CIH patients. METHODS: Using the Korean Health Insurance Review and Assessment claims database, we evaluated the incidence of hypophosphatemia initially diagnosed from 2003 to 2018...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37625205/proliferation-and-dissemination-of-killer-meiotic-drive-loci
#30
REVIEW
Eric C Lai, Aaron A Vogan
Killer meiotic drive elements are selfish genetic entities that manipulate the sexual cycle to promote their own inheritance via destructive means. Two broad classes are sperm killers, typical of animals and plants, and spore killers, which are present in ascomycete fungi. Killer meiotic drive systems operate via toxins that destroy or disable meiotic products bearing the alternative allele. To avoid suicidal autotargeting, cells that bear these selfish elements must either lack the toxin target, or express an antidote...
August 23, 2023: Current Opinion in Genetics & Development
https://read.qxmd.com/read/37610111/development-and-electronic-health-record-validation-of-an-algorithm-for-identifying-patients-with-duchenne-muscular-dystrophy-in-us-administrative-claims
#31
JOURNAL ARTICLE
Rachel Schrader, Nate Posner, Patricia Dorling, Cynthia Senerchia, Yong Chen, Katherine Beaverson, Jerry Seare, Nicolas Garnier, Valery Walker, José Alvir, Matthias Mahn, Valeria Merla, Yiran Zhang, Christina Landis, Ami R Buikema
BACKGROUND: Muscular dystrophies (MDs) comprise a heterogenous group of genetically inherited conditions characterized by progressive muscle weakness and increasing disability. The lack of separate diagnosis codes for Duchenne MD (DMD) and Becker MD, 2 of the most common forms of MD, has limited the conduct of DMD-specific real-world studies. OBJECTIVE: To develop and validate administrative claims-based algorithms for identifying patients with DMD and capturing their nonambulatory and ventilation-dependent status...
September 2023: Journal of Managed Care & Specialty Pharmacy
https://read.qxmd.com/read/37352554/recent-evolution-of-a-maternally-acting-sex-determining-supergene-in-a-fly-with-single-sex-broods
#32
JOURNAL ARTICLE
Robert B Baird, John M Urban, Andrew J Mongue, Kamil S Jaron, Christina N Hodson, Malte Grewoldt, Simon H Martin, Laura Ross
Sex determination is a key developmental process, yet it is remarkably variable across the tree of life. The dipteran family Sciaridae exhibits one of the most unusual sex determination systems in which mothers control offspring sex through selective elimination of paternal X chromosomes. Whereas in some members of the family females produce mixed-sex broods, others such as the dark-winged fungus gnat Bradysia coprophila are monogenic, with females producing single-sex broods. Female-producing females were previously found to be heterozygous for a large X-linked paracentric inversion (X´), which is maternally inherited and absent from male-producing females...
June 23, 2023: Molecular Biology and Evolution
https://read.qxmd.com/read/37347056/case-report-sex-specific-characteristics-of-epilepsy-phenotypes-associated-with-xp22-31-deletion-a-case-report-and-review
#33
Yi Wu, Dan Wu, Yulong Lan, Shaocong Lan, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in epilepsy characteristics associated with deletions in the Xp22.31 region. In this study, we reported two siblings with a 1.69 Mb maternally inherited microdeletion at Xp22.31 involving the genes VCX3A, HDHD1, STS, VCX, VCX2 , and PNPLA4 presenting with easily controlled focal epilepsy and language delay with mild ichthyosis in a Chinese family with a traceable 4-generation history of skin ichthyosis...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37322010/impact-of-genetic-variants-within-serotonin-turnover-enzymes-on-human-cerebral-monoamine-oxidase-a-in-vivo
#34
JOURNAL ARTICLE
Marie Spies, Matej Murgaš, Chrysoula Vraka, Cecile Philippe, Gregor Gryglewski, Lukas Nics, Theresa Balber, Pia Baldinger-Melich, Annette M Hartmann, Dan Rujescu, Marcus Hacker, Edda Winkler-Pjrek, Dietmar Winkler, Rupert Lanzenberger
Variants within the monoamine oxidase A (MAO-A, MAOA) and tryptophan hydroxylase 2 (TPH2) genes, the main enzymes in cerebral serotonin (5-HT) turnover, affect risk for depression. Depressed cohorts show increased cerebral MAO-A in positron emission tomography (PET) studies. TPH2 polymorphisms might also influence brain MAO-A because availability of substrates (i.e. monoamine concentrations) were shown to affect MAO-A levels. We assessed the effect of MAOA (rs1137070, rs2064070, rs6323) and TPH2 (rs1386494, rs4570625) variants associated with risk for depression and related clinical phenomena on global MAO-A distribution volume (VT ) using [11 C]harmine PET in 51 participants (21 individuals with seasonal affective disorder (SAD) and 30 healthy individuals (HI))...
June 15, 2023: Translational Psychiatry
https://read.qxmd.com/read/37307601/half-chromatid-mutation-as-a-possible-cause-of-mosaic-males-and-females-in-hymenoptera-and-rare-fertile-male-tortoiseshell-cats
#35
JOURNAL ARTICLE
Robin Edward Owen
Half-chromatid mutations occur when a single base change in a gamete is transmitted to the zygote which, after DNA replication and cleavage, will result in a mosaic individual. These mutations will be passed on through the germ plasm and also may be expressed somatically. Half-chromatid mutation has been suggested to account for the observed lower frequency of males than expected for lethal X-linked recessive disorders in humans, such as Lesch-Nyhan syndrome, incontinentia pigmenti and Duchene muscular dystrophy...
June 12, 2023: Genome Génome / Conseil National de Recherches Canada
https://read.qxmd.com/read/37274790/a-deletion-variant-arg616-of-androgen-receptor-in-a-chinese-family-with-complete-androgen-insensitivity-syndrome
#36
JOURNAL ARTICLE
Leilei Ding, Duoduo Zhang, Fengxia Yao, Min Luo, Shan Deng, Qinjie Tian
Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario. Methods: This study is a retrospective analysis of CAIS cases in a three-generation pedigree. The patients' genomes were determined by sequencing the androgen receptor ( AR ) gene. The clinical data of the patients, including manifestations, hormone levels, and AR variants, were analyzed...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37249397/evaluation-of-genetic-and-non-genetic-risk-factors-for-degenerative-cervical-myelopathy
#37
JOURNAL ARTICLE
Maksim A Shlykov, Erica M Giles, Michael P Kelly, Shiow J Lin, Vy T Pham, Nancy L Saccone, Elizabeth L Yanik
STUDY DESIGN: Cohort study. OBJECTIVE: Our aim was to evaluate the associations of genetic and non-genetic factors with degenerative cervical myelopathy (DCM). SUMMARY OF BACKGROUND DATA: There is mounting evidence for an inherited predisposition for DCM, but uncertainty remains regarding specific genetic markers involved. Similarly, non-genetic factors are thought to play a role. MATERIALS AND METHODS: Using diagnosis codes from hospital records linked to the UK Biobank cohort, patients with cervical spondylosis were identified followed by the identification of a subset with DCM...
May 30, 2023: Spine
https://read.qxmd.com/read/37231151/inheritance-and-molecular-mapping-of-solitary-cluster-fruit-bearing-habit-in-luffa
#38
JOURNAL ARTICLE
Nangsol D Bhutia, Amish K Sureja, Manjusha Verma, S Gopala Krishnan, Lalit Arya, Rakesh Bhardwaj, Prasanta K Dash, Anilabha Das Munshi
Fruiting behaviour and sex form are important goals for Luffa breeders and this study aimed to shed light upon inheritance patterns for both these traits. The hermaphrodite form of Luffa acutangula (known as Satputia) is an underutilized vegetable with a unique clustered fruiting habit. Its desirable traits, such as plant architecture, earliness, as well as contrasting traits like unique clustered fruiting, bisexual flower, and crossability with Luffa acutangula (monoecious ridge gourd with solitary fruits), make it a potential source for trait improvement and mapping of desirable traits in Luffa...
May 25, 2023: Molecular Genetics and Genomics: MGG
https://read.qxmd.com/read/37218718/sex-without-sexes-can-the-cost-of-finding-a-mate-explain-diversity-in-fungal-mating-systems
#39
JOURNAL ARTICLE
Timothy Y James
Eukaryotes have evolved myriad ways of uniting gametes during sexual reproduction. A repeated pattern is the convergent evolution of a mating system with the fusion of larger gametes with smaller gametes (anisogamy) from that of fusion between morphologically identical gametes (isogamy). In anisogamous species, sexes are defined as individuals that produce only one gamete type. Although sexes abound throughout Eukarya, in Fungi there are no biological sexes, because even in anisogamous species, individuals are hermaphroditic and produce both gamete types...
May 22, 2023: Integrative and Comparative Biology
https://read.qxmd.com/read/37186395/hypercholesterolemia-induced-by-spontaneous-oligogenic-mutations-in-rhesus-macaques-macaca-mulatta
#40
JOURNAL ARTICLE
Akiko Takenaka, Juri Suzuki, Hiroyuki Tanaka, Kumiko Hibino, Yoshiro Kamanaka, Shin Nakamura, Fusako Mitsunaga, Yoshi Kawamoto, Mayumi Morimoto, Seitaro Aisu, Takayoshi Natsume
BACKGROUND: A rhesus macaque with the fourth highest plasma cholesterol (CH) levels of 501 breeding macaques was identified 22 years ago. Seven offspring with gene mutations causing hypercholesterolemia were obtained. METHODS: Activity of low-density lipoprotein receptor (LDLR), plasma CH levels and mRNA expression levels of LDLR were measured after administration of 0.1% (0.27 mg/kcal) or 0.3% CH. RESULTS: Activity of p. (Cys82Tyr) of LDLR was 71% and 42% in the heterozygotes and a homozygote, respectively...
April 26, 2023: Journal of Medical Primatology
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