Personal information

Other IDs

Scopus Author ID: 55871340200
Loop profile: 1071149

Keywords

primary cilia, genetics of rare disorders, Drosophila model of disease

Countries

India

Activities

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Employment (2)

Kasturba Medical College Manipal: Manipal, Karnataka, IN

2016-03-21 to present | Assistant Professor (Medical Genetics)
Employment
Source: Self-asserted source
Priyanka Upadhyai

University of Manchester: Manchester, Manchester, GB

2013-09-01 to 2016-03-14 | Postdoctoral Research Associate (Faculty of Life Sciences)
Employment
Source: Self-asserted source
Priyanka Upadhyai

Education and qualifications (3)

University of Pittsburgh: Pittsburgh, PA, US

2007-09 to 2013-05 | PhD (Biological Sciences)
Education
Source: Self-asserted source
Priyanka Upadhyai

University of Calcutta: Kolkata, West Bengal, IN

2004-08 to 2006-07 | Master of Science (Biotechnology)
Education
Source: Self-asserted source
Priyanka Upadhyai

University of Calcutta: Kolkata, West Bengal, IN

2001-08 to 2004-07 | Bachelor of Science (Zoology)
Education
Source: Self-asserted source
Priyanka Upadhyai

Works (24)

Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro

Molecular Biology Reports
2024-12 | Journal article
DOI: 10.1007/s11033-023-09114-9
Contributors: Vishal Singh Guleria; Neha Quadri; Keshava Prasad; Ranajit Das; Priyanka Upadhyai
Source: check_circle
Crossref

Primary cilia in skeletal development and disease

Experimental Cell Research
2023-10 | Journal article
DOI: 10.1016/j.yexcr.2023.113751
Contributors: Neha Quadri; Priyanka Upadhyai
Source: check_circle
Crossref

The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila

Experimental Cell Research
2022-09 | Journal article
DOI: 10.1016/j.yexcr.2022.113273
Contributors: Vishal Singh Guleria; Rahul Parit; Neha Quadri; Ranajit Das; Priyanka Upadhyai
Source: check_circle
Crossref

Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry

Life
2022-08-24 | Journal article
DOI: 10.3390/life12091300
Contributors: Priyanka Upadhyai; Pooja U. Shenoy; Bhavya Banjan; Mohammed F. Albeshr; Shahid Mahboob; Irfan Manzoor; Ranajit Das
Source: check_circle
Crossref
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Preferred source (of 2)‎

Genomic and Ancestral Variation Underlies the Severity of COVID-19 Clinical Manifestation in Individuals of European Descent

Life
2021-09-05 | Journal article
DOI: 10.3390/life11090921
Part of ISSN: 2075-1729
Source: Self-asserted source
Priyanka Upadhyai

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Human mutation
2021-05-31 | Journal article
DOI: 10.1002/humu.24235
PMID: 34057271
Source: Self-asserted source
Priyanka Upadhyai

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Clinical genetics
2021-01-28 | Journal article
DOI: 10.1111/cge.13928
PMID: 33463720
Source: Self-asserted source
Priyanka Upadhyai

The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent.

BMC genetics
2020-10-22 | Journal article
DOI: 10.1186/s12863-020-00919-2
PMID: 33092524
PMC: PMC7583313
Source: Self-asserted source
Priyanka Upadhyai

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.

American journal of medical genetics. Part A
2020-09-29 | Journal article
DOI: 10.1002/ajmg.a.61893
PMID: 32990402
Source: Self-asserted source
Priyanka Upadhyai

Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation.

PeerJ
2020-08-21 | Journal article
DOI: 10.7717/peerj.9799
PMID: 32884864
PMC: PMC7444507
Source: Self-asserted source
Priyanka Upadhyai

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Clinical dysmorphology
2020-07-01 | Journal article
DOI: 10.1097/mcd.0000000000000327
PMID: 32459673
Source: Self-asserted source
Priyanka Upadhyai

Modulation of the promoter activation rate dictates the transcriptional response to graded BMP signaling levels in the Drosophila embryo

2019-11-10 | Other
DOI: 10.1101/837179
Contributors: Caroline Hoppe; Jonathan R. Bowles; Thomas G. Minchington; Catherine Sutcliffe; Priyanka Upadhyai; Magnus Rattray; Hilary L. Ashe
Source: check_circle
Crossref

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.

Gene
2019-11-07 | Journal article
DOI: 10.1016/j.gene.2019.144229
PMID: 31706999
Source: Self-asserted source
Priyanka Upadhyai

Investigating the West Eurasian ancestry of Pakistani Hazaras.

Journal of genetics
2019-06-01 | Journal article
PMID: 31204712
Source: Self-asserted source
Priyanka Upadhyai

Application of the geographic population structure (GPS) algorithm for biogeographical analyses of wild and captive gorillas.

BMC bioinformatics
2019-02-05 | Journal article
DOI: 10.1186/s12859-018-2568-5
PMID: 30717677
PMC: PMC6362561
Source: Self-asserted source
Priyanka Upadhyai

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Bone
2018-11-06 | Journal article
DOI: 10.1016/j.bone.2018.10.026
PMID: 30408610
Source: Self-asserted source
Priyanka Upadhyai

An Ancestry Informative Marker Set Which Recapitulates the Known Fine Structure of Populations in South Asia.

Genome biology and evolution
2018-09-01 | Journal article
DOI: 10.1093/gbe/evy182
PMID: 30184103
PMC: PMC6143162
Source: Self-asserted source
Priyanka Upadhyai

Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: A case study of South Asians from 1000 genomes project

BMC Genetics
2017 | Journal article
DOI: 10.1186/s12863-017-0579-2
EID:

2-s2.0-85039731551
Contributors: Das, R.; Upadhyai, P.
Source: Self-asserted source
Priyanka Upadhyai via Scopus - Elsevier

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

2017-03 | Journal article
DOI: 10.1038/jhg.2017.35
PMID: 28356563
Contributors: Shukla A; Hebbar M; Srivastava A; Kadavigere R; Upadhyai P; Kanthi A; Brandau O; Bielas S; Girisha KM
Source: Self-asserted source
Priyanka Upadhyai via Europe PubMed Central

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

European Journal of Medical Genetics
2017-02 | Journal article
DOI: 10.1016/j.ejmg.2016.11.006
Contributors: Anju Shukla; Priyanka Upadhyai; Jhanvi Shah; K. Neethukrishna; Stephanie Bielas; K.M. Girisha
Source: check_circle
Crossref

Unraveling the population history of Indian Siddis

2017-01-20 | Preprint
DOI: 10.1101/101857
Contributors: Ranajit Das; Priyanka Upadhyai
Source: check_circle
Crossref

Tracing the biogeographical origin of South Asian populations using DNA SatNav

2016-11-25 | Preprint
DOI: 10.1101/089466
Contributors: Ranajit Das; Priyanka Upadhyai
Source: check_circle
Crossref

Reconstruction of phylogenetic history to resolve the subspecies anomaly of Pantherine cats

2016-10-24 | Preprint
DOI: 10.1101/082891
Contributors: Ranajit Das; Priyanka Upadhyai
Source: check_circle
Crossref

Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types

Development
2013-10-01 | Journal article
DOI: 10.1242/dev.099366
Contributors: P. Upadhyai; G. Campbell
Source: Self-asserted source
Priyanka Upadhyai via Crossref Metadata Search

Peer review (4 reviews for 3 publications/grants)

Review activity for JoVE. (1)
Review activity for Respiratory medicine. (1)
Review activity for Tissue & cell. (2)
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