scholarly journals Genotype-Phenotype Heterogeneity in Haemophilia

2019 ◽  
Author(s):  
Muhammad Tariq Masood Khan ◽  
Abid Sohail Taj
Keyword(s):  
Phenotype Heterogeneity

scholarly journals New avenues for systematically inferring cell-cell communication: through single-cell transcriptomics data

2020 ◽  
Vol 11 (12) ◽  
pp. 866-880 ◽  
Author(s):  
Xin Shao ◽  
Xiaoyan Lu ◽  
Jie Liao ◽  
Huajun Chen ◽  
Xiaohui Fan
Keyword(s):  
Single Cell ◽  
Communication Networks ◽  
Cell Communication ◽  
Receptor Interaction ◽  
Communication Studies ◽  
Transcriptomics Data ◽  
Phenotype Heterogeneity ◽  
Multicellular Organisms ◽  
Communication Study ◽  
Cell Cell

AbstractFor multicellular organisms, cell-cell communication is essential to numerous biological processes. Drawing upon the latest development of single-cell RNA-sequencing (scRNA-seq), high-resolution transcriptomic data have deepened our understanding of cellular phenotype heterogeneity and composition of complex tissues, which enables systematic cell-cell communication studies at a single-cell level. We first summarize a common workflow of cell-cell communication study using scRNA-seq data, which often includes data preparation, construction of communication networks, and result validation. Two common strategies taken to uncover cell-cell communications are reviewed, e.g., physically vicinal structure-based and ligand-receptor interaction-based one. To conclude, challenges and current applications of cell-cell communication studies at a single-cell resolution are discussed in details and future perspectives are proposed.

Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort

2020 ◽  
Author(s):  
Chenhui Mao ◽  
Liling Dong ◽  
Jie Li ◽  
Xinying Huang ◽  
Dan Lei ◽  
...  
Keyword(s):  
Phenotype Heterogeneity ◽  
Genotype Correlation

scholarly journals UMAP reveals cryptic population structure and phenotype heterogeneity in large genomic cohorts

PLoS Genetics ◽  
2019 ◽  
Vol 15 (11) ◽  
pp. e1008432 ◽  
Author(s):  
Alex Diaz-Papkovich ◽  
Luke Anderson-Trocmé ◽  
Chief Ben-Eghan ◽  
Simon Gravel
Keyword(s):  
Population Structure ◽  
Phenotype Heterogeneity

scholarly journals Phenotype heterogeneity in cancer cell populations

2016 ◽  
Author(s):  
Luis Almeida ◽  
Rebecca Chisholm ◽  
Jean Clairambault ◽  
Alexandre Escargueil ◽  
Tommaso Lorenzi ◽  
...  
Keyword(s):  
Cancer Cell ◽  
Cell Populations ◽  
Phenotype Heterogeneity

scholarly journals Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
You Na Kim ◽  
Joon Seon Song ◽  
Seak Hee Oh ◽  
Yoon Jeon Kim ◽  
Young Hee Yoon ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Disease Progression ◽  
Sequencing Data ◽  
Korean Patients ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Structural Progression ◽  
Novel Variant ◽  
Whole Exome Sequencing Data ◽  
Phenotype Heterogeneity

Abstract Due to the genotype–phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype–phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.0 years). Amongst these patients, ten previously reported PDE6B variants (c.1280G > A, c.1488del, c.1547T > C, c.1604T > A, c.1669C > T, c.1712C > T, c.2395C > T, c.2492C > T, c.592G > A, and c.815G > A) and one novel variant (c.712del) were identified. Thirteen patients (86.7%) experienced night blindness as the first symptom at a median age of 10.0 years. Median age at diagnosis was 21.0 years and median visual acuity (VA) was 0.20 LogMAR at the time of genetic analysis. Nonlinear mixed models were developed and analysis revealed that VA exponentially decreased over time, while optical coherence tomography parameters linearly decreased, and this was related with visual field constriction. A high proportion of patients with the c.1669C > T variant (7/9, 77.8%) had cystoid macular edema; despite this, patients with this variant did not show a higher rate of functional or structural progression. This study will help clinicians predict functional and structural progression in patients with PDE6B-RP.

scholarly journals A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Xuyun Hu ◽  
Jun Liu ◽  
Ruolan Guo ◽  
Jun Guo ◽  
Zhipeng Zhao ◽  
...  
Keyword(s):  
De Novo ◽  
Deletion Syndrome ◽  
Tooth Agenesis ◽  
Diagnostic Strategy ◽  
Genomic Disorder ◽  
Case Presentation ◽  
Whole Exome ◽  
Number Variation ◽  
Phenotype Heterogeneity ◽  
Genomic Disorders

Abstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. Case presentation We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients. Conclusion Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.

scholarly journals RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

2020 ◽  
Vol 4 (6) ◽  
pp. 1131-1144 ◽  
Author(s):  
Anna L. Brown ◽  
Peer Arts ◽  
Catherine L. Carmichael ◽  
Milena Babic ◽  
Julia Dobbins ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Published Data ◽  
Data Sets ◽  
Gene Deletions ◽  
Phenotypic Differences ◽  
Recurrent Mutations ◽  
Platelet Disorder ◽  
Related Transcription Factor ◽  
Phenotype Heterogeneity ◽  
Familial Platelet Disorder

Abstract First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM. Combining genomic data from the families reported herein with aggregated published data sets resulted in 130 germline RUNX1 families, which allowed us to investigate whether specific germline mutation characteristics (type, location) could explain the large phenotypic heterogeneity between patients with familial platelet disorder and different HMs. Comparing the somatic mutational signatures between the available familial (n = 35) and published sporadic (n = 137) RUNX1-mutated AML patients showed enrichment for somatic mutations affecting the second RUNX1 allele and GATA2. Conversely, we observed a decreased number of somatic mutations affecting NRAS, SRSF2, and DNMT3A and the collective genes associated with CHIP and epigenetic regulation. This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.

scholarly journals Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy

2015 ◽  
Vol 93 (8) ◽  
pp. 762-766 ◽  
Author(s):  
Cecilia Rönnbäck ◽  
Claus Nissen ◽  
Gitte J. Almind ◽  
Karen Grønskov ◽  
Dan Milea ◽  
...  
Keyword(s):  
Ganglion Cell ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Plexiform Layer ◽  
Inner Plexiform Layer ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Phenotype Heterogeneity
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