Pubfacts - Scientific Publication Data
  • Categories
  • Journals
  • ->
  • Login
  • Categories
  • Journals

Search Our Scientific Publications & Authors

Publications
  • Publications
  • Authors
find publications by category +
Translate page:
Get 20% Off Journals at LWW.com

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Authors:
Mohsin Shahzad Sairah Yousaf Yar M Waryah Hadia Gul Tasleem Kausar Nabeela Tariq Umair Mahmood Muhammad Ali Muzammil A Khan Ali M Waryah Rehan S Shaikh Saima Riazuddin Zubair M Ahmed

Sci Rep 2017 03 7;7:44185. Epub 2017 Mar 7.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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 genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported Pakistani families. Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel variants, segregating with nsOCA phenotype in 80 families. Variants of TYR and OCA2 genes were the most common cause of nsOCA, occurring in 43 and 30 families, respectively. Twenty-two novel variants include nine missense, four splice site, two non-sense, one insertion and six gross deletions. In vitro studies revealed retention of OCA proteins harboring novel missense alleles in the endoplasmic reticulum (ER) of transfected cells. Exon-trapping assays with constructs containing splice site alleles revealed errors in splicing. As eight alleles account for approximately 56% (95% CI: 46.52-65.24%) of nsOCA cases, primarily enrolled from Punjab province of Pakistan, hierarchical strategies for variant detection would be feasible and cost-efficient genetic tests for OCA in families with similar origin. Thus, we developed Tetra-primer ARMS assays for rapid, reliable, reproducible and economical screening of most of these common alleles.

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep44185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339803PMC
March 2017

Publication Analysis

Top Keywords

clinical consequences
8
novel variants
8
oculocutaneous albinism
8
splice site
8
alleles
6
nsoca
5
nsoca occurring
4
occurring families
4
common nsoca
4
oca2 genes
4
tyr oca2
4
variant detection
4
genes common
4
non-sense insertion
4
variants include
4
include missense
4
missense splice
4
twenty-two novel
4
detection feasible
4
families twenty-two
4

Similar Publications

A Revised Theory of Sudden Gains in Psychological Treatments.

Authors:
Idan M Aderka Jonathan G Shalom

Behav Res Ther 2021 Feb 20;139:103830. Epub 2021 Feb 20.

University of Haifa, Israel. Electronic address:

Sudden gains were first defined and quantified by Tang and DeRubeis (1999) and were found to predict treatment outcome in cognitive therapy for depression. Since that seminal paper, over 100 examinations of sudden gains have been published and sudden gains have been found to be ubiquitous in psychological treatments and to consistently predict better treatment outcomes across a multitude of disorders and contexts (see Shalom & Aderka, 2020 for a review). The research on sudden gains has seen considerable growth over the past 20 years. Read More

View Article and Full-Text PDF
February 2021
Similar Publications

"Delineating the roles of Grhl2 in craniofacial development through tissue-specific conditional deletion and epistasis approaches in mouse".

Authors:
Michael de Vries Harley G Owens Marina R Carpinelli Darren Partridge Ariena Kersbergen Kate D Sutherland Alana Auden Peter J Anderson Stephen M Jane Sebastian Dworkin

Dev Dyn 2021 Feb 26. Epub 2021 Feb 26.

Department of Physiology, Anatomy and Microbiology, La Trobe University, Melbourne, Victoria, Australia.

Background: The highly-conserved Grainyhead-like (Grhl) family of transcription factors play critical roles in the development of the neural tube and craniofacial skeleton. In particular, deletion of family member Grainyhead-like 2 (Grhl2) leads to mid-gestational embryonic lethality, maxillary clefting, abdominoschisis, and both cranial and caudal neural tube closure defects. These highly pleiotropic and systemic defects suggest that Grhl2 plays numerous critical developmental roles to ensure correct morphogenesis and patterning. Read More

View Article and Full-Text PDF
February 2021
Similar Publications

Diabetes, stroke, and neuroresilience: looking beyond hyperglycemia.

Authors:
Matthew J Krinock Neel S Singhal

Ann N Y Acad Sci 2021 Feb 26. Epub 2021 Feb 26.

Department of Neurology, University of California - San Francisco, San Francisco, California.

Ischemic stroke is a leading cause of morbidity and mortality among type 2 diabetic patients. Preclinical and translational studies have identified critical pathophysiological mediators of stroke risk, recurrence, and poor outcome in diabetic patients, including endothelial dysfunction and inflammation. Most clinical trials of diabetes and stroke have focused on treating hyperglycemia alone. Read More

View Article and Full-Text PDF
February 2021
Similar Publications

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Authors:
Alyssa L Kennedy Kasiani C Myers James Bowman Christopher J Gibson Nicholas D Camarda Elissa Furutani Gwen M Muscato Robert H Klein Kaitlyn Ballotti Shanshan Liu Chad E Harris Ashley Galvin Maggie Malsch David Dale John M Gansner Taizo A Nakano Alison Bertuch Adrianna Vlachos Jeffrey M Lipton Paul Castillo James Connelly Jane Churpek John R Edwards Nobuko Hijiya Richard H Ho Inga Hofmann James N Huang Siobán Keel Adam Lamble Bonnie W Lau Maxim Norkin Elliot Stieglitz Wendy Stock Kelly Walkovich Steffen Boettcher Christian Brendel Mark D Fleming Stella M Davies Edie A Weller Christopher Bahl Scott L Carter Akiko Shimamura R Coleman Lindsley

Nat Commun 2021 Feb 26;12(1):1334. Epub 2021 Feb 26.

Department of Medical Oncology, Division of Hematological Malignancies Dana-Farber Cancer Institute, Boston, MA, USA.

To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53. Read More

View Article and Full-Text PDF
February 2021
Similar Publications

The Use of Tablet Computers to Reduce Preoperative Anxiety in Children Before Anesthesia: A Randomized Controlled Study.

Authors:
Nicola G Clausen Dorthe Madsen Charlotte Rosenkilde Dorthe Hasfeldt-Hansen Line G Larsen Tom G Hansen

J Perianesth Nurs 2021 Feb 23. Epub 2021 Feb 23.

Department of Anaesthesiology and Intensive Care, University Hospital Odense, Odense, Denmark; Department of Clinical Research - Anaesthesiology, University of Southern Denmark, Odense, Denmark.

Purpose: Children undergoing surgery and general anesthesia often experience preoperative anxiety (POA) with related negative short-, medium- and long-term consequences. Anxiolytic premedication has negative side effects, and nonpharmacologic interventions are often resource demanding and not always readily available in a busy clinical setting. The use of an age-appropriate game on a tablet computer may reduce POA, postoperative pain, and occurrence of emergence delirium (ED). Read More

View Article and Full-Text PDF
February 2021
Similar Publications
Save 15% Survey
© 2021 PubFacts.
  • About PubFacts
  • Privacy Policy
  • Sitemap