Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Qamre Alam"'
Autor:
Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E. Antonarakis, Khalid A Fakhro, Muhammad Umair, Muhammad Ansar
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectiveThis study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).MethodsWe conducted clinical, genetic, bioche
Externí odkaz:
https://doaj.org/article/da892fb22a4541a385dabfbb11685b3e
Autor:
Tayyaba Afsar, Hongxia Fu, Hammal Khan, Zain Ali, Zamrud Zehri, Gohar Zaman, Safdar Abbas, Arif Mahmood, Qamre Alam, Junjian Hu, Suhail Razak, Muhammad Umair
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, and delays in achieving motor or language milestones. SLITRK2 is a postsynaptic cell-adhes
Externí odkaz:
https://doaj.org/article/2824b0791d5a4f9aa0d463705e6ae6d2
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 57-69 (2023)
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders characterized by abnormal development, remodeling, and growth of the human skeleton's cartilage and bones. GSDs have a high spectrum of phenotypes that range from dis
Externí odkaz:
https://doaj.org/article/626f51df7c08436ba55d64ed852c6ca1
Autor:
Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–
Externí odkaz:
https://doaj.org/article/749d1d3869cd49fbb491ca3b51a3fe3b
Autor:
Misbahuddin M Rafeeq, Alaa Hamed Habib, Alaa F. Nahhas, Najat Binothman, Majidah Aljadani, Jawaher Almulhim, Ziaullah M Sain, Mohammad Zubair Alam, Norah A Alturki, Qamre Alam, Manish Manish, Rajnish Kumar Singh
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Kaposi’s sarcoma associated herpesvirus (KSHV) is causative agent of Kaposi’s sarcoma, Multicentric Castleman Disease and Pleural effusion lymphoma. KSHV-encoded ORF17 encodes a protease which cleaves -Ala-Ala-, -Ala-Ser- or -Ala-Thr-bonds. The p
Externí odkaz:
https://doaj.org/article/713c3756c12c4c7f97de7867b3dd812d
Autor:
Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M. Sain, Muhammad Jawad Khan, Muhammad Umair
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell f
Externí odkaz:
https://doaj.org/article/b807be928a704899a162b4415102d94f
Autor:
Yusra Alyafee, Abeer Al Tuwaijri, Muhammad Umair, Mashael Alharbi, Shahad Haddad, Maryam Ballow, Latifah Alayyar, Qamre Alam, Saleh Althenayyan, Nadia Al Ghilan, Aziza Al Khaldi, Majid S. Faden, Hamad Al Sufyan, Majid Alfadhel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus sampling and amniocentesis.Methods: We collected blood samples from four
Externí odkaz:
https://doaj.org/article/6349c6a25dd14c8d86f5e7a5721f6c04
Autor:
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous. It is characterized by early
Externí odkaz:
https://doaj.org/article/24ff3b1c93b5491089cb4bf443c751b5
Autor:
Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair
Publikováno v:
Genes, Vol 14, Iss 5, p 1113 (2023)
Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod–cone dystrop
Externí odkaz:
https://doaj.org/article/7f969be289ef4ebcb4beb7908051ce4c
Autor:
Ahmed Waqas, Anam Nayab, Shabnam Shaheen, Safdar Abbas, Muhammad Latif, Misbahuddin M. Rafeeq, Ibtesam S. Al-Dhuayan, Amany I. Alqosaibi, Mashael M. Alnamshan, Ziaullah M. Sain, Alaa Hamed Habib, Qamre Alam, Muhammad Umair, Muhammad Arif Nadeem Saqib
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease
Externí odkaz:
https://doaj.org/article/4eb65008b1a94b32b524ac436a44bb96