Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case ReportAbstract X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe [...] 24 226 |
Diagnosis of Infectious Diseases by CRISPR/Cas Systemby
Mahintaj Dara
,
Negin Shafieipour
,
Mahsa Saffar
,
Mehdi Dianatpour
,
Seyed-Mohammad-Bagher Tabei
and
Seyed-Alireza Dastgheib
Abstract Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas sy [...] 98 480 |
Investigating Interest in Cancer Predisposition Testing and Expanded Carrier Screening in Routine Gynecologic Care among Pregnancy Capable IndividualsAbstract The goal of this qualitative study was to explore pregnancy capable individuals’ perceptions of having cancer predisposition testing (CPT) and/or expanded carrier screening (ECS) during routine gynecologic care and how these perceptions differ across individuals. A thematic analysis was conducted ba [...] 74 419 |
Potential CRISPR-Cas9-based Antiviral Activity Against Hepatitis C Virus in Liver CancerAbstract Hepatitis C virus (HCV) is a primary global health concern, and though therapeutic options have improved, no very effective vaccine is available despite decades of research. The health and vitality of the organism are related to the result of homeostatic regulation of the internal environment. In co [...] 130 721 |
Inheritance Studies of Root-Knot Nematode (Meloidogyne Species) Resistance in Tomato (Solanum Lycopersicum L.)by
Matilda Frimpong
,
Michael Kwabena Osei
,
Kingsley Osei
,
Ruth Naa Ashiokai Prempeh
,
Joseph Gyau
,
Isaac Newton Boakye-Mensah
,
Bismark Abugri
and
Maxwell Darko Asante
Abstract Plant-parasitic nematodes threaten tomato cultivation in Ghana, particularly the root-knot nematodes, causing substantial economic yield losses. However, these yield losses can be prevented through resistant varieties. This study aims to determine the type of gene action, heritability, heterosis and [...] 100 624 |
When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesiaby
Joni Indah Sari
,
Nydia Rena Benita Sihombing
,
Nani Maharani
,
Tri Indah Tri Indah
and
Agustini Utari
Abstract DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two [...] 196 1128 |
Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case ReportAbstract Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. [...] 280 1212 |
Clinical and Molecular Profile of Dystrophin Gene Deletions in Eastern Moroccoby
Smaili Fatimazahra
,
Zerrouki Khawla
,
Aouni Fatima Ezzahra
,
Ghanam Ayad
,
Rkain Maria
,
Babakhouya Abddeladim
and
Tajir Mariam
Abstract Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BM [...] 149 1001 |
Maternally Derived Complex Small Supernumerary Marker Chromosome 22 Associated with Cat-Eye Syndrome Like Featuresby
Hicham Bouchahta
,
Zhour EL Amrani
,
Siham Chafai Elalaoui
,
Fatima Ouboukss
,
Aziza Sbiti
,
Laila Sbabou
,
Thomas Liehr
,
Abdelaziz Sefiani
and
Abdelhafid Natiq
Abstract Cat-eye syndrome (CES) is a rare genetic disease first reported in 1965. The estimated prevalence of CES is 1:50,000 to 1:150,000, and it is typically associated with an inverted duplicated small supernumerary marker chromosome (sSMC) derived from chromosome 22. The specific chromosomal band involve [...] 152 1174 |
A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin TherapyAbstract Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales [...] 149 1438 |