Ontology highlight
ABSTRACT:
PROVIDER: PRJEB11416 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:HLA typing of a family (patient and his father) for donor selection to haploidential transplantation of hematopoetic stem cells(HSC) 1434-1, 1434-3
| PRJEB12062 | ENA
Project description:HLA typing of a family (patient and his mother) for donor selection to haploidential transplantation of hematopoetic stem cells(HSC) 1140-1, 1140-2
| PRJEB12060 | ENA
Project description:HLA typing of a family (patient and his mother) for donor selection to haploidential transplantation of hematopoetic stem cells(HSC) 1432-1, 1432-3
| PRJEB12061 | ENA
Project description:Kallmann Syndrome (KS) is a rare human genetic disorder characterized by the hypogonadotropic hypogonadism with the reduction or absence of olfactory sense. The mutations on the multiple genes including Chemokine Prokineticin-2 (PROK2) were considered to contribute to the abnormal migration of gonadotropin-releasing hormone (GnRH) neurons in embryonic stage. Here, we submit RNA-seq of the peripheral blood and the cell free miRNA-seq in the serum of one family, in which the KS patient has the same mutation of PROK2 (c.223-4C>A) with his mother, and the genetic phenotype of his father is normal. The sexual development and function of his parents are normal.
2020-05-01 | E-MTAB-8919 | biostudies-arrayexpress
Project description:Gene products from the highly variable major histocompatibility locus, including HLA, are essential for self-recognition and immune surveillance of malignancy. Following allogeneic hematopoietic cell transplantation (alloHCT), genetic and epigenetic alterations in HLA can drive disease recurrence, making precise HLA assessment critical for determination of future therapy. However, current methods lack the sensitivity to quantify HLA transcripts at the single cell level, limiting their clinical utility. We introduce scrHLA-typing, a novel method that accurately identifies and quantifies HLA transcripts in single cells using hybridization capture and long-read sequencing. When applied to samples from patients with post-transplant relapse, scrHLA-typing successfully detected allele-specific expression of MHC gene products at clinically actionable levels. By characterizing allele expression in residual leukemia cells, our assay identified differences in expression patterns among patients. This capability highlights scrHLA-typing’s potential to improve risk stratification and guide the selection of appropriate salvage therapies, enhancing personalized treatment strategies after post-transplant relapse.
2025-09-17 | GSE305306 | GEO
Project description:Gene products from the highly variable major histocompatibility locus, including HLA, are essential for self-recognition and immune surveillance of malignancy. Following allogeneic hematopoietic cell transplantation (alloHCT), genetic and epigenetic alterations in HLA can drive disease recurrence, making precise HLA assessment critical for determination of future therapy. However, current methods lack the sensitivity to quantify HLA transcripts at the single cell level, limiting their clinical utility. We introduce scrHLA-typing, a novel method that accurately identifies and quantifies HLA transcripts in single cells using hybridization capture and long-read sequencing. When applied to samples from patients with post-transplant relapse, scrHLA-typing successfully detected allele-specific expression of MHC gene products at clinically actionable levels. By characterizing allele expression in residual leukemia cells, our assay identified differences in expression patterns among patients. This capability highlights scrHLA-typing’s potential to improve risk stratification and guide the selection of appropriate salvage therapies, enhancing personalized treatment strategies after post-transplant relapse.
2025-09-17 | GSE305305 | GEO
Project description:Gene products from the highly variable major histocompatibility locus, including HLA, are essential for self-recognition and immune surveillance of malignancy. Following allogeneic hematopoietic cell transplantation (alloHCT), genetic and epigenetic alterations in HLA can drive disease recurrence, making precise HLA assessment critical for determination of future therapy. However, current methods lack the sensitivity to quantify HLA transcripts at the single cell level, limiting their clinical utility. We introduce scrHLA-typing, a novel method that accurately identifies and quantifies HLA transcripts in single cells using hybridization capture and long-read sequencing. When applied to samples from patients with post-transplant relapse, scrHLA-typing successfully detected allele-specific expression of MHC gene products at clinically actionable levels. By characterizing allele expression in residual leukemia cells, our assay identified differences in expression patterns among patients. This capability highlights scrHLA-typing’s potential to improve risk stratification and guide the selection of appropriate salvage therapies, enhancing personalized treatment strategies after post-transplant relapse.
2025-09-17 | GSE305307 | GEO
Project description:We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to ascertain the relative effects of the homozygous and heterozygous deletions. The proband with 15q13.3 homozygous deletion and his parents with 15q13.3 heterozygous deletions described in our previous report 15 were evaluated using Affymetrix aCGH-244K arrays (build hg18). The aCGH data were validated by qPCR using primers specific to CHRNA7 as previously described. 15 The extended family and comparison subjects were also screened using the CHRNA7 primers. Immortalized lymphoblastoid lines were created from the proband, his mother, father, a paternal half sister, a paternal half brother, a paternal grandmother and two paternal great uncles. Three lymphoblastoid lines from age- and sex- matched normally developing comparison subjects with normal chromosomes were obtained from the Coriell cell repository [(AG14724 (8 yo), AG14948 (10 yo), AG14980 (9 yo)] were used for gene expression comparison with the proband. The samples from the father, mother and paternal grandmother with heterozygous 15q13.3 deletions were compared to samples from lymphoblastoid cells from adult male and female subjects respectively (normal copy number for 15q13.3 determined by qPCR).
2013-02-17 | E-GEOD-43583 | biostudies-arrayexpress