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View article: A De Novo Deleterious <i>PHEX</i> Variant Without Clinical Features of X-Linked Hypophosphatemia
A De Novo Deleterious <i>PHEX</i> Variant Without Clinical Features of X-Linked Hypophosphatemia Open
X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. Consequent renal phosphate loss leads to hypophosphatemia, rickets…
View article: D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia Open
D ‐bifunctional protein (DBP) deficiency is a rare, autosomal recessive peroxisomal enzyme deficiency resulting in a high burden of morbidity and early mortality. Patients with DBP deficiency resemble those with a severe Zellweger phenotyp…
View article: Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation Open
Background and Aims Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identi…
View article: The Human Blood-Nerve Barrier Transcriptome
The Human Blood-Nerve Barrier Transcriptome Open
The blood-nerve barrier (BNB), formed by tight junction-forming microvessels within peripheral nerve endoneurium, exists to regulate its internal microenvironment essential for effective axonal signal transduction. Relatively little is kno…
View article: Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population Open
Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six g…
View article: Targeted next generation sequencing of breast implant‐associated anaplastic large cell lymphoma reveals mutations in <scp>JAK</scp>/<scp>STAT</scp> signalling pathway genes, <i><scp>TP</scp>53</i> and <i><scp>DNMT</scp>3A</i>
Targeted next generation sequencing of breast implant‐associated anaplastic large cell lymphoma reveals mutations in <span>JAK</span>/<span>STAT</span> signalling pathway genes, <i><span>TP</span>53</i> and <i><span>DNMT</span>3A</i> Open
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View article: The genetic landscape of dural marginal zone lymphomas
The genetic landscape of dural marginal zone lymphomas Open
The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic …
View article: Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders
Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders Open
Post-transplant lymphoproliferative disorders of T- or NK-cell origin (T/NK-PTLD) are rare entities and their genetic basis is unclear. We performed targeted sequencing of 465 cancer-related genes and high-resolution copy number analysis i…
View article: Whole-Exome Sequencing in Familial Parkinson Disease
Whole-Exome Sequencing in Familial Parkinson Disease Open
TNK2 and TNR harbored rare, likely deleterious, variants in individuals having familial PD, with similar findings in an independent cohort. To our knowledge, these genes have not been previously associated with PD, although they have been …