Ontology highlight
ABSTRACT:
PROVIDER: PRJEB92095 | ENA |
REPOSITORIES: ENA
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Project description:Repository for the study: Deficiency in homozygous haplotypes reveals recessive lethal mutations affecting fertility in the Friesian horse M.J. Steensma, B.J. Ducro, H.P. Doekes, B. Dibbits, M.A.M. Groenen, M.F.L. Derks
2025-07-11 | PRJEB92095 | EVA
Project description:The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. NCKAP1L is involved in lymphocyte development, phagocytosis and neutrophils migration. Here we report the first cases of NCKAP1L-deficiency in man, as homozygous non-sense or splice variants, observed in 2 independent patients of Middle-Eastern origin of 1.5 months and 9 years of age respectively. We described a novel nosological entity, combining to various degrees, immune deficiency, lymphoproliferation within a highly inflammatory syndrome, reminiscent, yet distinct of HLH; due to recessive mutations in NCKAP1L.
2020-07-31 | PXD016191 | Pride
Project description:The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. NCKAP1L is involved in lymphocyte development, phagocytosis and neutrophils migration. Here we report the first cases of NCKAP1L-deficiency in man, as homozygous non-sense or splice variants, observed in 2 independent patients of Middle-Eastern origin of 1.5 months and 9 years of age respectively. We described a novel nosological entity, combining to various degrees, immune deficiency, lymphoproliferation within a highly inflammatory syndrome, reminiscent, yet distinct of HLH; due to recessive mutations in NCKAP1L.
2020-07-23 | PXD018042 | Pride
Project description:The purpose of this study was to examine the role of MAVS, ZBP1 and RIPK3 in the phenotype that develops when ADAR1 activity is impaired, in particular when the Za domain of ADAR1 is mutated. Mice homozygous for a Za domain-mutant allele of Adar1 (Adar1mZa/mZa mice) and mice carrying one mZa and one null Adar1 allele (Adar1-/mZa mice) were compared with control mice that were either wild type or heterozygous for the Adar1 mZa allele (Adar1wt/mZa mice). The effects of MAVS deficiency, RIPK3 deficiency, ZBP1 deficiency or ZBP1 Za domain mutations were assessed by analysing compound mutant mice. Given the early postnatal lethal phenotype that develops in Adar1-/mZa mice, comparisons were made in RNA isolated from lung tissue from newborn mice of each genotype (5 mice per genotype). As Adar1-/mZa mice additionally lacking Mavs or Zbp1 are viable, adult mice (15-20 weeks of age) were also used for several compound mutations as donors of lung tissue.
2022-06-09 | E-MTAB-11540 | biostudies-arrayexpress
Project description:This experiment showed the microarray expression of a barley recessive mutant (G132) and its wild type (Hordeum vulgare cv. Graphic) under high CO2 concentration. The homozygous mutation has a strong pleiotropic nature affecting many aspects of plant. In order to identify target genes of this mutation, changes in gene expression of mutant and its responses to elevated CO2 were compared to wild type.
2017-02-07 | E-MTAB-4942 | biostudies-arrayexpress
Project description:The heterozygous INS c.16C>T (insulin p.Arg6Cys, R6C) mutation has been described to cause monogenic diabetes, but its pathogenicity has recently been questioned. R6C preproinsulin exhibits impaired translocation into the endoplasmic reticulum (ER), potentially affecting insulin secretion. We explored why "one copy isn’t enough" for the R6C pathogenicity using integrative clinical, genetic, and functional approaches. Homozygous INS R6C individuals presented early-onset insulin-dependent diabetes, whereas heterozygous carriers showed variable or absent glycemic phenotypes. Population-level analysis revealed no significant enrichment of diabetes among heterozygous carriers. Heterozygous R6C induced pluripotent stem cell (iPSC)-derived β cells exhibited minimal defects, while homozygous R6C cells displayed preproinsulin accumulation and reduced insulin content and secretion. In vivo, homozygous R6C β cell transplants recapitulated human insulin deficiency and responded poorly to GLP-1 receptor agonist therapy. Transcriptionally, homozygous R6C β cells presented repression of translation, translocation and ER related pathways. Our findings establish R6C as a recessive pathogenic mutation, prompting a reassessment of the clinical interpretation of heterozygous R6C carriers. This study highlights the power of iPSC-based disease modeling and multi-modal variant classification frameworks for dissecting the functional consequences of rare genetic variants in human monogenic diabetes.
2025-12-23 | GSE300608 | GEO
Project description:Autosomal recessive PIK3CD deficiency
| PRJNA893903 | ENA
Project description:NGlY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global developmental delay, motor disorder, and liver dysfunction. To better understand disease pathogensis and neurological symptoms of NGLY1 deficiency we generated and characterized midbrain organoids using patient-derived iPSCs from two patients with disease causing mutations.
2023-02-03 | GSE224294 | GEO
Project description:Numerous single gene mutations identified in humans and mice result in nail deformities with many similarities between the species. A spontaneous, autosomal, recessive mutation called witch nails whnl is described here where the distal nail matrix and nail bed undergo degenerative changes resulting in formation of an abnormal nail plate causing mice to develop long, curved nails. This mutation arose spontaneously in a colony of MRL MpJ-Faslpr J at The Jackson Laboratory. Homozygous mutant mice are recognizable by 8 weeks of age by their long, curved nails. The whnl mutation, mapped on Chromosome 15, is due to a 7-bp insertion identified in the 3 region of exon 9 in the Krt90 gene formerly Riken cDNA 4732456N10Rik, and is predicted to result in a frameshift that changes serine 476 to arginine and subsequently introduces 36 novel amino acids into the protein before a premature stop codon p. Ser476ArgfsTer36. By immunohistochemistry the normal KRT90 protein is expressed in the nail matrix and nail bed in control mice where lesions are located in mutant mice. Immunoreactivity toward equine KRT124, the ortholog of mouse KRT90, is restricted to the nail bed of the hoof and the mouse nail unit. Equine laminitis lesions are similar to those observed in this mutant mouse suggesting that the latter may be a useful model for this horse disease. This first spontaneous mouse mutation affecting the novel Krt90 gene provides new insight into the normal regulation of the molecular pathways of nail development.
2022-07-05 | MSV000089811 | MassIVE
Project description:Recessive single-nucleotide mutations in MARS2 are causative for a mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, sensorineural hearing loss, and hypotonia. We generated a mouse model of MARS2 deficiency by introduction of the p.R135W mutation, the sequence homolog of the human p.R142W mutation.
2023-12-21 | GSE172286 | GEO