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Browsing Biochemistry and Molecular Genetics by Author "Faculty of Medicine (FM)"

Now showing items 1-20 of 421

2-Nucleobase-substituted 4,6-Diaminotriazine Analogs: Synthesis and Anti-cancer Activity in 5-Fluorouracil-sensitive and Resistant Colorectal Cancer Cells

Hamze, Khalil; Abdallah, Rola H.; Younis, Nour K.; Fardoun, Manal Muin; Darwiche, Nadine D.; Kobeissy, Firas H.; Iratni, Rabah; Bouhadir, Kamal Hani; Eid, Ali H. (Bentham Science Publishers, 2023)

Background: Cancer continues to be the second leading cause of death worldwide, with colorectal cancer (CRC) being the third most common type. Despite significant advances in cancer therapies, the current treatment of CRC ...
A cautious note on thalidomide usage in cancer treatment: Genetic profiling of the tbx2 sub-family gene expression is required

Nemer, Georges M.; Khalil, Athar A. (Georg Thieme Verlag, 2019)

Thalidomide is still by excellence the mysterious drug that fascinated, blurred, misled, and changed the scientific community perspectives and policies. It was introduced in the 1950's as a sedative drug, then shortly ...
A critical review of animal models used in acute myeloid leukemia pathophysiology

Skayneh, Hala; Jishi, Batoul; Hleihel, Rita S.; Hamieh, Maguy; Darwiche, Nadine D.; Bazarbachi, Ali Abdul Hamid; El-Sabban, Marwan E.; El-Hajj, Hiba Ahmad (MDPI AG, 2019)

Acute myeloid leukemia (AML) is one of the most frequent, complex, and heterogeneous hematological malignancies. AML prognosis largely depends on acquired cytogenetic, epigenetic, and molecular abnormalities. Despite the ...
A HAND to TBX5 Explains the Link between Thalidomide and Cardiac Diseases

Khalil, Athar A.; Tanos, Rachel; El Hachem, Nehme; Kurban, Mazen S.; Bouvagnet, Patrice F.; Bitar, Fadi Fouad; Nemer, Georges M. (Nature Publishing Group, 2017)

Congenital heart disease is the leading cause of death in the first year of life. Mutations only in few genes have been linked to some cases of CHD. Thalidomide was used by pregnant women for morning sickness but was removed ...
A likelihood based approach for joint modeling of longitudinal trajectories and informative censoring process

Jaffa, Miran A.; Jaffa, Ayad A. (Taylor and Francis Inc., 2019)

We propose a joint modeling likelihood-based approach for studies with repeated measures and informative right censoring. Joint modeling of longitudinal and survival data are common approaches but could result in biased ...
A Likelihood-Based Approach with Shared Latent Random Parameters for the Longitudinal Binary and Informative Censoring Processes

Jaffa, Miran A.; Jaffa, Ayad A. (Springer New York LLC, 2019)

Longitudinal studies with binary outcomes characterized by informative right censoring are commonly encountered in clinical, basic, behavioral, and health sciences. Approaches developed to analyze data with binary outcomes ...
A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity

Soueid, Jihane; Hamze, Zeinab; Bedran, Joe; Chahrour, Maria H.; Boustany, Rose Mary Naaman (Springer Nature, 2023)

The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ...
A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations

Khalil, Athar A.; Al-Haddad, Christiane Elias; Hariri, Hadla; Shibbani, Kamel; Bitar, Fadi Fouad; Kurban, Mazen S.; Nemer, Georges M.; Arabi, Mariam Toufic (Frontiers Media S.A., 2017)

Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to ...
A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

Stephan, Carla; Hanna, Edith; Nemer, Georges M.; Abbas, Ossama M.; Kurban, Mazen S. (Elsevier Inc, 2018)
A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia

Khalil, Samar; Hayashi, Ryota; Daou, Laetitia; Staiteieh, Soumaiah Abou; Abbas, Ossama M.; Bergqvist, Christina; Nemer, Georges M.; Shimomura, Yutaka; Kurban, Mazen S. (Blackwell Publishing Ltd, 2017)

The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including ...
A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Gharibeh, Lara; El-Rassy, Inaam; Soubra, Ayman; Safa, Raya; Fahed, A. K.L.; Tanos, Rachel; Arabi, Mariam Toufic; Kambris, Zakaria; Bitar, Fadi Fouad; Nemer, Georges M. (Springer India, 2015)
A novel pathogenic CDH3 variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)-a case report

Kadhi, Ayat; Hamie, Lamiaa; Tamer, Christel; Nemer, Georges M.; Kurban, Mazen S. (Cold Spring Harbor Laboratory Press, 2022)

Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. ...
A novel role for CSRP1 in a lebanese family with congenital cardiac defects

Kamar, Amina A.; Fahed, Akl C.; Shibbani, Kamel; El Hachem, Nehme; Bou-Slaiman, Salim; Arabi, Mariam Toufic; Kurban, Mazen S.; Seidman, Jonathan G.; Seidman, Christine E.; Haidar, Rachid K.; Baydoun, Elias Abdel Hasan; Nemer, Georges M.; Bitar, Fadi Fouad (Frontiers Media S.A., 2017)

Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous ...
A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect

Fardoun, Manal Muin; Dehaini, Hassan; Kamar, Amina A.; Bitar, Fadi Fouad; Majdalani, Marianne Nimah; El-Rassi, Issam M.; Nemer, Georges M.; Arabi, Mariam Toufic (Springer New York LLC, 2019)

Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the ...
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans

Nemer, Georges M.; El Hachem, Nehme; Eid, Edward Said; Hamie, Lamiaa; Bardawil, Tara; Khalil, Samar; El-Rassy, Inaam; Safi, Rémi; Khalil, Athar A.; Abbas, Ossama M.; Shimomura, Yutaka; Kurban, Mazen S. (Blackwell Publishing Ltd, 2020)

Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and ...
A Piez-o the jigsaw: the Piezo1 channel in skin biology

Eid, Edward Said; Kurban, Mazen S. (John Wiley and Sons Inc, 2022)

The skin is the largest organ covering the entirety of the body. Its role as a physical barrier to the outside world as well as its endocrinological and immunological functions subject it to continuous internal and external ...
A shared comparison of diabetes mellitus and neurodegenerative disorders

Morsi, Mahmoud; Kobeissy, Firas H.; Magdeldin, Sameh; Maher, Ahmed; Aboelmagd, Omnia; Johar, Dina R.; Bernstein, Larry H. (Wiley-Liss Inc., 2019)

Diabetes mellitus (DM), one of the most prevalent metabolic diseases in the world population, is associated with a number of comorbid conditions including obesity, pancreatic endocrine changes, and renal and cardio-cerebrovascular ...
A signature of four circulating micrornas as potential biomarkers for diagnosing early-stage breast cancer

Itani, Maha M.; Nassar, Farah J.; Tfayli, Arafat Hussein; Talhouk, Rabih S.; Chamandi, Ghada K.; Itani, Abdulrahman S.; Makoukji, Joelle; Boustany, Rose Mary Naaman; Hou, Lifang; Khoueiry-Zgheib, Nathalie; Nasr, Rihab R. (MDPI, 2021)

Breast cancer (BC) is the most predominant type of cancer among women. The aim of this study is to find new biomarkers that can help in early detection of BC, especially for those who are too young to be screened using ...
A temporal in vivo catalog of chromatin accessibility and expression profiles in pineoblastoma reveals a prevalent role for repressor elements

Idriss, Salam; Hallal, Mohamad M.; El-Kurdi, Abdullah; Zalzali, Hassan; El-Rassi, Inaam; Ehli, Erik A.; Davis, Christel M.; Chung, Philip E.D.; Gendoo, Deena Mohamad Ameen; Zacksenhaus, Eldad; Saab, Raya H.; Khoueiry, Pierre H. (Cold Spring Harbor Laboratory Press, 2023)

Pediatric pineoblastomas (PBs) are rare and aggressive tumors of grade IV histology. Although some oncogenic drivers are characterized, including germline mutations in RB1 and DICER1, the role of epigenetic deregulation ...
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes

Peifer-Weiss, Leon; Kurban, Mazen S.; David, Céline; Lubeck, Melissa; Kondadi, Arun Kumar; Nemer, Georges M.; Reichert, Andreas S.; Anand, Ruchika (John Wiley and Sons Inc, 2023)

APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall ...

Now showing items 1-20 of 421

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Browsing Biochemistry and Molecular Genetics by Author "Faculty of Medicine (FM)"

Browsing Biochemistry and Molecular Genetics by Author "Faculty of Medicine (FM)"

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