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Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

OBJECTIVE: To determine whether HLA and autoimmunity contribute to the pathogenesis of Blau syndrome (familial granulomatous arthritis, uveitis, and rash) and evaluate whether this condition is related to sarcoidosis. DESIGN: Large family survey. SETTING: General community, Green Bay, Wis, and two tertiary care medical centers in Philadelphia, Pa. PARTICIPANTS: Thirty-six family members and spouses from a large kindred with Blau syndrome. SELECTION PROCEDURES: Volunteer and convenience sample. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Ten affected and many unaffected subjects were p

Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

STUDY QUESTION: Can whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and … s responsible for double-strand Holliday junction recognition and stabilization, to ensure accurate chromosome segregation during meiosis. Knockout male and female mice for Msh4 and Msh5 are reportedly infertile due to meiotic arrest. In humans, MSH4 is associated with male and female gonadal failure, with distinct variations in the MutS domain V. STUDY DESIGN, SIZE, D …

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

PURPOSE: The aim of this study was to screen affected members of glaucoma families for mutations in the Trabecular Meshwork Inducible Glucocorticoid Response (TIGR) gene also known by the name myocilin (MYOC) or by combined names such as TIGR/MYOC. Our primary objectives were (1) to identify mutations responsible for glaucoma in members of three families for which we have shown linkage between chromosome 1 GLC1A-region markers and the primary open angle glaucoma (POAG) phenotype, and (2) to determine the relationship of these and other mutations to key points of predicted function and structur

Maternal age affects pronuclear and chromatin dynamics, morula compaction and cell polarity, and blastulation of human embryos.

STUDY QUESTION: Does maternal ageing impact early and late morphokinetic and cellular processes of human blastocyst formation? SUMMARY ANSWER: Maternal ageing significantly affects pronuclear size and intra- and extra-nuclear dynamics during fertilization, dysregulates cell polarity during compaction, and reduces blastocoel expansion. WHAT IS KNOWN ALREADY: In ART, advanced maternal age (AMA) affects oocyte yield, fertilization, and overall developmental competence. However, with the exception of chromosome segregation errors occurring during oocyte meiosis, the molecular and biochemical mec…

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.

BACKGROUND: Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the development of these disorders. METHODS: Our study was done in three stages. First, we did genome-wide linkage analysis of an Italian family with dominantly inherited Parkinson's disease to identify the disease locus. Second, we sequenced the candidate gene in an international multicentre series of unrelated probands who were diagnosed either clinically or path

Primary aldosteronism: learning from the study of familial varieties.

Primary aldosteronism (PAL) has been traditionally regarded as a rare cause of hypertension and not worth looking for in the absence of hypokalemia. However, the availability of the aldosterone/renin ratio as a screening test and its application to a wider population of hypertensives has resulted in a marked increase in detection rate, suggesting that PAL is common, with most patients being normokalemic. The spectrum of PAL has been expanded further by the study of familial varieties, in which family screening efforts have permitted the recognition of earlier, sometimes even pre-clinical, stag

[Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. It is urgently needed to elucidate the cause of the disease and to establish neuroprotective treatment. We have been working on the etiology and pathogenesis of PD for many years and we found selective loss of mitochondrial complex I and the alpha-ketoglutarate dehydrogenase complex in the nigral neurons of patients with PD. Our observation firmly established mitochondrial defects in PD. Mitochondrial respiratory failure induces oxidative damage in neurons, and we found increase in hydroxyno

Сексуальная последовательность показывает низкочастотные и редкие варианты воздействия на подверженность множественным склерозам в турецких семьях.

Множественный склероз (MS) характеризуется как болезнь центральной нервной системы с иммунной помощью, которая характеризуется хроническим воспалением, обезвоживанием и прогрессивным нейродегенерацией. В этом исследовании мы проанализировали вклад низкочастотных и редких генетических вариантов в подверженность MS в рамках одной из крупнейших на сегодняшний день семейных групп MS, в состав которых входят 215 человек из 59 турецких семей с множественными MS. На всех образцах, включая затронутых и не затронутых членов, была проведена целая последовательность экзотических операций, за которой посл

Анализ многократной миеломы (ММ) и Моноклональной гаммопатии неопределенных знаков (MGUS)

История семьи является известным фактором риска для множественной миеломы (ММ) и ее предшественника, моноколональной гаммопатии неопределённого значения (МГУС). Предыдущие исследования в рамках всей ассоциации генома (ОСГ) выявили 35 общие loci, связанные с риском MM и 21 связанные с MGS. Цель этого исследования заключалась в выявлении менее распространенных и редких генетических loci, предвосхищающих MM/MGUS, путем проведения анализа последовательности связей на основе целых экспозиций (WES).МЕТОДЫ: Мультиточечный анализ связей был проведен с использованием многоточечного двигателя быстрого с

Rescue in vitro maturation of germinal vesicle oocytes after ovarian stimulation: the importance of the culture media.

STUDY QUESTION: What are the nuclear and initial developmental outcomes of rescue-IVM oocytes across multiple commercially available media? SUMMARY ANSWER: Of the 11 different media tested, Medium K provided the highest rescue rate in the shortest time and elicited the highest normal oocyte activation rate (NOAR). WHAT IS KNOWN ALREADY: Following ovarian stimulation, 10-15% of the oocytes are immature with about 10% states in prophase I, i.e. the germinal vesicle (GV) stage. A consensus is still needed whether to rescue these oocytes for clinical use or not, as reports of live births from re

Анализ ассоциации геномов показывает новый QTL CsPC1 для перикарпового цвета в огурце.

Огурчик - это важная дыня в мире с разными перикарными цветами. Однако потенциальные гены и основополагающий генетический механизм для такой важной черты огурца неизвестны. В этом исследовании на хромосоме был найден цвет колокольчика, контролирующего перикарп 3 генома огурцов. Результаты: В этом исследовании светло-зеленая линия G35 и темно-зеленая линия Q51 были пересечены для производства one Население F2. Таким образом, мы определили крупное цокольное поле CsPC1 (Перикарный цвет) 1). Далее мы нарисовали строку CsPC1 94-kb районная хромосома 3 который содержит 15 Гены. Среди этих генов Csa3

Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans.

Timelines of population-level effects of viruses on humans varied from the evolutionary scale of million years to contemporary spread of viral infections. Correspondingly, these events are exemplified by: (i) emergence of human endogenous retroviruses (HERVs) from ancient germline infections leading to stable integration of viral genomes into human chromosomes; and (ii) wide-spread viral infections reaching a global pandemic state such as the COVID-19 pandemic. Despite significant efforts, understanding of HERV's roles in governance of genomic regulatory networks, their impacts on primate evol

SAE1 May Play a Pro-Carcinogenic Role in Pancreatic Adenocarcinoma: A Comprehensive Study Integrating Multiple Pieces of Evidence.

SAE1, a key factor in tumour development, has not been thoroughly examined in pancreatic adenocarcinoma (PAAD), a cancer with high incidence and poor prognosis. We conducted a comprehensive study, integrating mRNA data, immunohistochemistry, CRISPR-modified cell line analysis and single-cell RNA sequencing to assess SAE1's role in PAAD. We also used ChIP-Seq to explore SAE1's transcriptional regulation and analysed clinical data, drug sensitivity and molecular docking models. SAE1 mRNA was significantly overexpressed in PAAD, with a substantial impact on cell proliferation and migration. Funct

Single-cell analysis comparing early-stage oocytes from fresh and slow-frozen/thawed human ovarian cortex reveals minimal impact of cryopreservation on the oocyte transcriptome.

STUDY QUESTION: Does the slow-freezing and thawing process have a negative impact on the transcriptome of oocytes isolated from early-stage … he three donors. In this comparison, fresh oocytes were enriched for gene ontology terms related to chromosome segregation and mitosis, whereas frozen/thawed oocytes were enriched for terms related to wound response, cAMP signaling, and extracellular matrix organization. LARGE SCALE DATA: Datasets available on Zenodo.org. DOI: https://zenodo.org/records/13224872. LIMI …

Using Prognosis-Related Gene Expression Signature and Connectivity Map for Personalized Drug Repositioning in Multiple Myeloma.

BACKGROUND Multiple myeloma (MM) is the second most common hematologic cancer with poor prognosis. Novel therapeutic strategies are needed to decrease the high mortality rate. The aim of this study was to identify prospective agents for MM. MATERIAL AND METHODS A microarray dataset was mined, which contains the transcriptome profiles of 588 MM patients. Univariate Cox analysis was performed to analyze the relationships between genes and clinical outcome. Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) were determined. Protective and risky genes were uploaded to Connec

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… For the BP level, prognosis-related mRNAs were mainly enriched in “sister chromatid segregation,” “chromosome segregation,” and “nuclear chromosome segregation”; for the CC level, the terms “chromosome, centromeric region,” “chromosomal region,” and “condensed chromosome” were the 3 most significant …

Всеобъемлющий анализ two Китайские геномы огурцов и мутантов как ресурсы для точного размножения.

Cumuis sativus L., известный как огурец, является важным овощным растениеводством во всем мире, крупнейшим производителем которого является Китай, в особенности северный и южно-китайский типы. В то время как обширные геномные исследования были сосредоточены на Северном Китае, особенно на китайском Лонге. 9930, исследования по Южно-Китайскому типу остаются ограниченными. В этом исследовании мы собрали высококачественные геномы two широко культивируемые и репрезентативные родные разновидности: S36 (тип Северной Китая) и H19 (тип Южной Китая) и провели анализ мутагенезов. Сравнительный анализ ген

Генетическая основа болезни.

Генетика в той или иной степени играет определенную роль во всех заболеваниях. Изменения в нашей ДНК и различия в том, как эта ДНК функционирует (одиночка или комбинация), наряду с окружающей средой (которая включает образ жизни), способствуют болезнетворным процессам. В рамках этого обзора изучается генетическая основа человеческих заболеваний, включая однородные генетические расстройства, хромосомные диспропорции, эпигенетические, раковые и сложные расстройства, и рассматривается вопрос о том, каким образом наше понимание и технологические достижения могут быть использованы для обеспечения н

Revealing the pharmacological effects of Remodelin against osteosarcoma based on network pharmacology, acRIP-seq and experimental validation.

Osteosarcoma (OS) is the most common primary malignant tumor of bone. Remodelin, an inhibitor of the N (4)-Acetylcytidine (ac4C) acetylation modifying enzyme N-acetyltransferase 10 (NAT10), has been shown to have therapeutic effects on cancer in several studies, and our previous studies have confirmed the inhibitory effect of Remodelin on OS cells, however, the mechanism of action has not yet been elucidated. We used network pharmacological analysis to quantify the therapeutic targets of Remodelin against OS. acRIP-seq and RNA-seq were performed to investigate the inhibitory activity of Remode

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… Among them, the BP component showed that the differentially modified genes were mostly related to the biological processes of chromosomes: Chromosome segregation, Sister chromatid segregation, Histone modification, Nuclear, chromosome segregation, Sister chromatid cohesion, Regulation of mRNA metabolic …

Mitochondrial metabolism influences meiotic maturation in human oocytes of young and advanced maternal age women.

STUDY QUESTION: Is there a relationship between the mitochondrial activity and the meiotic progression of oocytes from germinal vesicle (GV) to metaphase II (MII) stages in young and advanced maternal age (AMA) women? SUMMARY ANSWER: Poor mitochondrial metabolism impairs the meiotic progression of human GV oocytes, contributing to a lower oocyte maturation capacity of AMA oocytes. WHAT IS KNOWN ALREADY: AMA oocytes are characterized by diminished quality, mostly due to the higher rates of chromosomal segregation errors occurring during meiosis I. Another hallmark of AMA oocytes is impaired m

Upregulation of TTK expression is associated with poor prognosis and immune infiltration in endometrial cancer patients.

BackgroundThreonine and tyrosine kinase (TTK) is associated with invasion and metastasis in various tumors. However, the prognostic importance of TTK and its correlation with immune infiltration in endometrial cancer (EC) remain unclear.MethodsThe expression profile of TTK was analyzed using data from The Cancer Genome Atlas (TCGA) and the Clinical Proteome Cancer Analysis Consortium (CPTAC). TTK protein and mRNA levels were verified in EC cell lines. Receiver operating characteristic (ROC) curve analysis was used to evaluate the ability of TTK to distinguish between normal and EC tissues. K-M

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… TTK plays a key role in safeguarding chromosome segregation fidelity, participating in the assembly of mitotic checkpoint complexes, regulating cytokinesis, responding to DNA damage, and promoting accurate chromosome alignment [ 9 ]. …