[HTML][HTML] Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history

HN Baris, IJ Cohen, PK Mistry - Pediatric endocrinology reviews …, 2014 - ncbi.nlm.nih.gov
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …

[HTML][HTML] Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

MA Tischfield, HN Baris, C Wu, G Rudolph… - Cell, 2010 - cell.com
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-
specific β-tubulin isotype III, result in a spectrum of human nervous system disorders that we …

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

WH Tan, HN Baris, PE Burrows, CD Robson… - Journal of medical …, 2007 - jmg.bmj.com
Background: Mutations in the PTEN gene cause two disorders that predispose to cancer,
Bannayan–Riley–Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation …

[HTML][HTML] VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

G Stelzer, I Plaschkes, D Oz-Levi, A Alkelai, T Olender… - BMC genomics, 2016 - Springer
Background Next generation sequencing (NGS) provides a key technology for deciphering
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …

PI (3, 4) P2-mediated cytokinetic abscission prevents early senescence and cataract formation

F Gulluni, L Prever, H Li, P Krafcikova, I Corrado… - Science, 2021 - science.org
INTRODUCTION In response to aging, senescence plays a major role in the onset of various
degenerative diseases, including the slow development of cataracts, a clouding of the eye …

[HTML][HTML] Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance

C Durno, AB Ercan, V Bianchi, M Edwards… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer
predisposition syndrome characterized by early-onset synchronous and metachronous …

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

L Haer-Wigman, H Newman, R Leibu… - Human molecular …, 2015 - academic.oup.com
Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is
clinically and genetically heterogeneous and can appear as syndromic or non-syndromic …

[HTML][HTML] Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

D Tiosano, HN Baris, A Chen, MM Hitzert… - PLoS …, 2019 - journals.plos.org
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes
the phosphorylation of phosphatidylinositol (PI) into PI (3) P and the phosphorylation of PI …

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

A Chen, D Tiosano, T Guran, HN Baris… - Human molecular …, 2018 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction
of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive …

[HTML][HTML] Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

MW Friederich, S Timal, CA Powell… - Nature …, 2018 - nature.com
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids
by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt …