Priyanka Upadhyai

Priyanka Upadhyai
Manipal Academy of Higher Education | MAHE · Kasturba Medical College - Medical Genetics

PhD

About

31
Publications
5,683
Reads
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167
Citations
Introduction
Our lab uses mammalian cell-culture and Drosophila to dissect the pathomechanisms underlying rare monogenic disorders. We are interested in primary cilia biogenesis, function, regulation and ciliopathies caused due to its aberrations. We also use population genetics approaches to understand human diseases.
Additional affiliations
September 2013 - March 2016
The University of Manchester
Position
  • PostDoc Position
August 2007 - May 2013
University of Pittsburgh
Position
  • PhD Student
September 2004 - July 2006
University of Calcutta
Position
  • Master's Student

Publications

Publications (31)
Article
Full-text available
The coronavirus disease (COVID-19) caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is characterized by a wide spectrum of clinical phenotypes ranging from asymptomatic to symptomatic with mild or moderate presentation and severe disease. COVID-19 susceptibility, severity and recovery have demonstrated high variabili...
Article
Full-text available
The coronavirus disease (COVID-19) caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is characterized by a wide spectrum of clinical phenotypes ranging from asymptomatic to symptomatic with mild or moderate presentation and severe disease. COVID-19 susceptibility, severity and recovery have demonstrated high variabili...
Article
RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi‐allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D respectively while those in EXOSC2 cause short stature, hearing loss, retinitis pigmentosa and dist...
Article
Full-text available
Background The population structure of the Indian subcontinent is a tapestry of extraordinary diversity characterized by the amalgamation of autochthonous and immigrant ancestries and rigid enforcement of sociocultural stratification. Here we investigated the genetic origin and population history of the Kumhars, a group of people who inhabit large...
Article
Waardenburg syndrome subtypes 1 and 3 are caused by pathogenic variants in PAX3. We investigated 12 individuals from four unrelated families clinically diagnosed with Waardenburg syndrome type 1/3. Novel pathogenic variants identified in PAX3 included single nucleotide variants (c.166C>T, c.829C>T), a 2-base pair deletion (c.366_367delAA) and a mul...
Article
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatric or behavioural abnormalities, have also been described. Here, we report on two siblings...
Preprint
Full-text available
Morphogen gradients specify cell fates during development, with a classic example being the BMP gradient's conserved role in embryonic dorsal-ventral axis patterning. Here we use quantitative imaging and computational modelling to determine how the BMP gradient is interpreted at single-cell resolution in the Drosophila embryo. We show that BMP sign...
Article
Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-r...
Article
Full-text available
The Hazaras are a distinct ethnic group from central Afghanistan and northwestern Pakistan of Mongoloid descent. Here, we sought to dissect the genetic admixture history of the Pakistani Hazaras and investigated their likely affiliation to ancient and extant West Eurasian populations. Our results indicated that the likely proportion of West Eurasia...
Article
Full-text available
Background The utilization of high resolution genome data has important implications for the phylogeographical evaluation of non-human species. Biogeographical analyses can yield detailed understanding of their population biology and facilitate the geo-localization of individuals to promote their efficacious management, particularly when bred in ca...
Article
Full-text available
Following publication of the original article [1], the authors flagged that acknowledgment of their equal contribution is omitted in the article [1].
Article
Genetic heterogeneity, high burden and the paucity of genetic testing for rare diseases challenge genomic healthcare for these disorders in India. Here we report our experience over the past decade, of establishing the genomic evaluation of skeletal dysplasia at a tertiary university hospital in India. Research or clinical genomic testing was carri...
Article
Full-text available
Background: The utilization of biological data to infer the geographic origins of human populations has been a long standing quest for biologists and anthropologists. Several biogeographical analysis tools have been developed to infer the geographical origins of human populations utilizing genetic data. However due to the inherent complexity of ge...
Poster
Full-text available
The Siddis are a unique tribal group of African ancestry predominantly found in the Indian states of Gujarat, Karnataka, Andhra Pradesh and Telengana. During 16th-19th centuries Siddis were transported in large numbers to India as slaves by the Portuguese. Several previous investigations have suggested that the Siddi genomes are predominantly close...
Article
Full-text available
The Siddis are a unique Indian tribe of African, South Asian and European ancestry. While previous investigations have traced their ancestral origins to the Bantu populations from sub-Saharan Africa, the geographic localization of their ancestry has remained elusive. Here, we performed biogeographical analysis to delineate the ancestral origin of t...
Article
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS)....
Preprint
The Siddis are a unique Indian tribe of African, South Asian and European ancestry. While their ancestral origins have been traced to the Bantu populations from sub-Saharan Africa, their population history has remained an enigmatic question. Here, we have traced the biogeographical origin of the Siddis employing an admixture based algorithm, Geogra...
Preprint
Full-text available
The Indian subcontinent includes India, Bangladesh, Pakistan, Nepal, Bhutan, and Sri Lanka that collectively share common anthropological and cultural roots. Given the enigmatic population structure, complex history and genetic heterogeneity of populations from this region, their biogeographical origin and history remain a fascinating question. In...
Preprint
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS)...
Article
Full-text available
Transcriptional repressors bind cis-regulatory elements of target genes in a sequence specific manner. To antagonize transcription, repressors primarily function by recruiting accessory proteins, co-repressors, which in turn largely function by modifying chromatin structure. Although a repressor could function by recruiting just a single co-repress...
Conference Paper
Full-text available
Transcriptional repressors function primarily by recruiting corepressors (CoRs), accessory proteins that antagonize transcription by modifying chromatin structure. Although a single CoR might be sufficient, many repressors, including the Drosophila protein Brinker, recruit multiple CoRs, with Brk recruiting the CoRs, CtBP and Groucho, in addition t...

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Projects

Projects (4)
Project
We use population genetics tools to characterise the underlying genetic factors in human disease and decipher ancestral variation
Project
We are evaluating various mechanisms of modulating gene expression in eukaryotes using Drosophila
Project
We aim to uncover molecular mechanisms of primary cilia biogenesis, regulation and function in various contexts eg. osteogenic and chondrogenic differentiation. We are also investigating the underlying basis of novel and rare ciliopathies