Reham M. Balahmar

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis

Hirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, Satoko Okado et autres

The molecular mechanisms regulating the phospholipid (PL) metabolism in the nucleus remain to be elucidated. Here, we describe the role of Dop1a in controlling PL abundance in nuclear membranes (NMs) under the control of mTOR signaling. A shortage of lysophosphatidic acid (LPA) …

jp, ch, gb, pk, nl, sa, fr, es, nz (code pays fourni par la source)

Non-syndromic intellectual disability and cataract in a patient with dual molecular diagnosis of SRD5A3 and PITX3-related diseases

Naif A. M. Almontashiri, Samar A. Al-Swailem, Reham M. Balahmar, Essa Alharby et autres

Objectives: Our objective was to identify the genetic cause in a patient with intellectual disability and bilateral cataracts. Methods: The genetic, neurological, and ophthalmological evaluations were performed. DNA samples were provided from the patient, parents, and unaffected sibs to perform whole exome …

sa (code pays fourni par la source)

A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia

Malak Ali Alghamdi, Essa Alharbi, Salman Aljarallah, Reham M. Balahmar et autres

sa (code pays fourni par la source)

A novel biallelic frameshift variant in MYO15A causing nonsyndromic hearing loss in Saudi family

Faisal Almalki, Hamzah A Wali, Reham M. Balahmar, Abdulraheem Alshareef et autres

Background: Sensorineural hearing loss is among the most common sensory defects worldwide. Nonsyndromic hearing loss (NSHL) accounts for 70% of inherited hearing loss. The genetic causes of NSHL are considered heterogeneous. The high rate of consanguineous marriages in Saudi Arabia increases the …

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Prevalence and clinical considerations of Y chromosome microdeletions in azoospermic and oligozoopsermic infertile men from Al Madinah Al Munawarah, Saudi Arabia

M.B. Shamsi, Rima Dada, Reham M. Balahmar, Dimah Zaytuni et autres

OBJECTIVES: To characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah. METHODS: We screened 97 infertile men from Al Madinah Al Munawarah, from February 2022 to March …

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection

Jamil Amjad Hashmi, Reham M. Balahmar, Muhammad Latif, Sulman Basit

AIM: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to …

sa (code pays fourni par la source)

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Jamil Amjad Hashmi, Muhammad Latif, Reham M. Balahmar, Muhammad Zeeshan Ali et autres

Background α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age. Newborns are usually asymptomatic, however, some cases …

sa, gb, pk (code pays fourni par la source)

Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection

Malak Ali Alghamdi, Wael Alqarawi, Essa Alharbi, Reham M. Balahmar et autres

us, sa (code pays fourni par la source)

Doxorubicin resistant choriocarcinoma cell line derived spheroidal cells exhibit stem cell markers but reduced invasion

Reham M. Balahmar, Venkataraman Deepak, Shiva D. Sivasubramaniam

Abstract Cell cycle-specific cancer chemotherapy is based on the ability of a drug to halt, minimise or destroy rapidly dividing cells. However, their efficacy is limited by the emergence of a self-renewing cell pool called “cancer stem cells” (CSC). Choriocarcinoma is a …

gb (code pays fourni par la source)

Analyses of selected tumour-associated factors expression in normotensive and preeclamptic placenta

Reham M. Balahmar, Vernon Justice Ebegboni, Jumanah Alamir, Augustine Rajakumar et autres

INTRODUCTION: Human placenta is often considered a controlled-tumour because of shared properties such as invasion and angiogenesis. We assessed the status of a few selected tumour-associated factors (TAFs) in late onset pre-eclamptic (PE) and normotensive (NT) placentae, to understand their involvement in …

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Differentiation of Stem Cells into Pancreatic Lineage: In vitro Cell Culture, in vivo Transplantation in Animal Models

Reham M. Balahmar

gb (code pays fourni par la source)

The effects of flavonoids on human first trimester trophoblast spheroidal stem cell self-renewal, invasion and JNK/p38 MAPK activation: Understanding the cytoprotective effects of these phytonutrients against oxidative stress

Vernon Justice Ebegboni, Reham M. Balahmar, John M. Dickenson, Shiva D. Sivasubramaniam

gb (code pays fourni par la source)