Výsledky vyhledávání - "Sibtain Afzal"

Akademický článek

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

Autor: Ahmad Almatrafi, Jamil A. Hashmi, Fatima Fadhli, Asma Alharbi, Sibtain Afzal, Khushnooda Ramzan, Sulman Basit

Publikováno v: Global Medical Genetics, Vol 07, Iss 04, Pp 109-112 (2020)

Ehlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associ

Externí odkaz: https://doaj.org/article/0fb296f872c9429f8494f0c2ab162c44

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Akademický článek

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

Autor: Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar

Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

Abstract Background X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and

Externí odkaz: https://doaj.org/article/5ab2066d1a5d425dbce17cff495e67c6

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Akademický článek

Three common single-nucleotide variants in the promoter region of thymic stromal lymphopoietin cytokine are not associated with asthma prevalence in a Saudi Arabian population

Autor: Maha Fahad Alenazy, Alejandro Vazquez-Tello, Rosan Kenana, Fatemeh Saheb Sharif-Askari, Areej Rashid Alkahtani, Amer Jamhawi, Sibtain Afzal, Roua Al-Kufiedy, Mohamed-Hani Temsah, Abeer Al-Masri, Fahad Alsohaime, Ayman Al-Eyadhy, Adel M Zakri, Elaref Ratemi, Saleh Al-Muhsen, Rabih Halwani

Publikováno v: Journal of Nature and Science of Medicine, Vol 3, Iss 4, Pp 234-240 (2020)

Background: Thymic stromal lymphopoietin (TSLP) is recognized for its key role in promoting asthma, hence drawing considerable clinical interest as a potential therapeutic target. Population-based studies found association between single nucleotide p

Externí odkaz: https://doaj.org/article/d3ef5277a7fb4760a5090b4e0851048f

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Akademický článek

Synthesis and Characterization of TiO2-Water Nanofluids

Autor: Raviteja Surakasi, Srujana Sripathi, Sarada Purnima Nadimpalli, Sibtain Afzal, Bharat Singh, Manoj Tripathi, Rahel Alemu Hafa

Publikováno v: Adsorption Science & Technology, Vol 2022 (2022)

Nanofluids made of TiO2 and multiwalled carbon nanotubes are the focus of our study. Using TiO2 and water as the basic fluids, nanofluids were created in 100 : 0, 75 : 25, and 50 : 50 proportions. Carbon nanotubes (CNTs) were disseminated into these

Externí odkaz: https://doaj.org/article/ee63995bdc1a4d9bb0ed55f59d593279

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Akademický článek

Fractional exhaled nitric oxide and respiratory complaints in Hajj pilgrims wearing a cotton towel or plain cotton ihram

Autor: Sultan Ayoub Meo, Muhammad Iqbal, Abeer Al-Masri, Inam Zia, Sibtain Afzal

Publikováno v: Journal of International Medical Research, Vol 48 (2020)

Objective Hajj is an important component of Islam. This study aimed to determine the effect of wearing a cotton towel or plain cotton ihram on the onset of respiratory symptoms and fractional exhaled nitric oxide (FeNO) levels in Hajj pilgrims. Metho

Externí odkaz: https://doaj.org/article/d8e0be99bbe641fb8a76145a6a4df532

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Akademický článek

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

Publikováno v: Biology, Vol 10, Iss 11, p 1182 (2021)

Background: Chronic myeloid leukemia (CML) is initiated in bone marrow due to chromosomal translocation t(9;22) leading to fusion oncogene BCR-ABL. Targeting BCR-ABL by tyrosine kinase inhibitors (TKIs) has changed fatal CML into an almost curable di

Externí odkaz: https://doaj.org/article/f81fb94a73054ad086543f8318509d8f

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Akademický článek

Prevalence of UDP-glucuronosyltransferase polymorphisms (UGT1A6∗2, 1A7∗12, 1A8∗3, 1A9∗3, 2B7∗2, and 2B15∗2) in a

Autor: Khalid M. Alkharfy, Basit L. Jan, Sibtain Afzal, Fahad I. Al-Jenoobi, Abdullah M. Al-Mohizea, Saleh Al-Muhsen, Rabih Halwani, Mohammad K. Parvez, Mohammed S. Al-Dosari

Publikováno v: Saudi Pharmaceutical Journal, Vol 25, Iss 2, Pp 224-230 (2017)

Glucuronidation is an important phase II pathway responsible for many endogenous substances and drug metabolism. The present work evaluated allele frequencies of certain UDP-glucuronosyl-transferases (UGT 1A6∗2, A7∗12, A8∗3, A9∗3, 2B7∗2, an

Externí odkaz: https://doaj.org/article/43312a3eeb4145b99f67e419d596d23a

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