Search Results - "MAHMOOD BAIG, Shahid"

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models by Batool, Tahira, Irshad, Saba, Riaz, Muhammad, Mahmood Baig, Shahid, Nuernberg, Peter, Hussain, Muhammad Sajid

“…Primary microcephaly is a rare, congenital, and genetically heterogeneous disorder in which occipitofrontal head circumference is reduced by a minimum of three…”
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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function by Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter

“…Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but…”
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Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability by Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami

“…PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic…”
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Genome-Wide Supported Risk Variants in MIR137 , CACNA1C , CSMD1 , DRD2 , and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population by Fatima, Ambrin, Farooq, Muhammad, Abdullah, Uzma, Tariq, Muhammad, Mustafa, Tanveer, Iqbal, Muhammad, Tommerup, Niels, Mahmood Baig, Shahid

“…Schizophrenia is a chronic neuropsychiatric disease afflicting around 1.1% of the population worldwide. Recently, , , , , and have been reported as the most…”
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Role of cholesterol and sphingolipids in brain development and neurological diseases by Hussain, Ghulam, Wang, Jing, Rasul, Azhar, Anwar, Haseeb, Imran, Ali, Qasim, Muhammad, Zafar, Shamaila, Kamran, Syed Kashif Shahid, Razzaq, Aroona, Aziz, Nimra, Ahmad, Waseem, Shabbir, Asghar, Iqbal, Javed, Baig, Shahid Mahmood, Sun, Tao

“…Brain is a vital organ of the human body which performs very important functions such as analysis, processing, coordination, and execution of electrical…”
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A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families by Akram, Rabia, Baig, Shahid Mahmood, Anwar, Haseeb, Hussain, Ghulam

“…Ataxia is usually caused by cerebellar pathology or a decrease in vestibular or proprioceptive afferent input to the cerebellum. It is characterized by…”
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Compound heterozygous ASPM mutations in Pakistani MCPH families by Muhammad, Farooq, Mahmood Baig, Shahid, Hansen, Lars, Sajid Hussain, Muhammad, Anjum Inayat, Iram, Aslam, Muhammad, Anver Qureshi, Javed, Toilat, Muhammad, Kirst, Elisabeth, Wajid, Muhammad, Nürnberg, Peter, Eiberg, Hans, Tommerup, Niels, Kjaer, Klaus W.

“…Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (≤4 SD) and mental retardation without any other neurological…”
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy by Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P

“…Andrew Jackson, Peter Nürnberg and colleagues identify mutations in PLK4 and TUBGCP6 in individuals with microcephaly, primordial dwarfism, retinopathy and…”
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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families by Zhou, Yingjie, Tariq, Muhammad, He, Sijie, Abdullah, Uzma, Zhang, Jianguo, Baig, Shahid Mahmood

“…Abstract Background Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss…”
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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family by Zulfiqar, Shumaila, Tariq, Muhammad, Ramzan, Shafaq, Khan, Ayaz, Sher, Muhammad, Ali, Zafar, Dahl, Niklas, Abdullah, Uzma, Mahmood Baig, Shahid

“…•A consanguineous Pakistani family was analyzed having clinical phenotype of GPR56 associated cobblestone like brain malformation.•A novel variant c.1601dupT…”
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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis by Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid

“…Objective Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual…”
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The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans by Ahmad, Ilyas, Lokau, Juliane, Kespohl, Birte, Malik, Naveed Altaf, Baig, Shahid Mahmood, Hartig, Roland, Behme, Daniel, Schwab, Roland, Altmüller, Janine, Jameel, Muhammad, Mucha, Sören, Thiele, Holger, Tariq, Muhammad, Nürnberg, Peter, Erdmann, Jeanette, Garbers, Christoph

“…Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features…”
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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family by Akram, Rabia, Anwar, Haseeb, Muzaffar, Humaira, Turchetti, Valentina, Lau, Tracy, Vona, Barbara, Makhdoom, Ehtisham Ul Haq, Iqbal, Javed, Mahmood Baig, Shahid, Hussain, Ghulam, Efthymiou, Stephanie, Houlden, Henry

“…Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity…”
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Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review by Zhang, Wei, Tariq, Muhammad, Roy, Bhaskar, Shen, Juan, Khan, Ayaz, Altaf Malik, Naveed, He, Sijie, Baig, Shahid Mahmood, Fang, Xiaodong, Zhang, Jianguo

“…Hereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular…”
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WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome by NAWAZ, Sadia, KLAR, Joakim, WAJID, Muhammad, ASLAM, Muhammad, TARIQ, Muhammad, SCHUSTER, Jens, MAHMOOD BAIG, Shahid, DAHL, Niklas

“…Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is…”
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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family by Szczepanski, Sandra, Hussain, Muhammad Sajid, Sur, Ilknur, Altmüller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nürnberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter

“…Primary microcephaly is a disorder characterized by a small head and brain associated with impaired cognitive capabilities. Mutations in 13 different genes…”
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A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family by Farooq, Muhammad, Fatima, Ambrin, Mang, Yuan, Hansen, Lars, Kjaer, Klaus Wilbrandt, Baig, Shahid Mahmood, Larsen, Lars Allan, Tommerup, Niels

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A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family by Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Marriam Bakhtiar, Syeda, Fatima, Ambrin, Hansen, Lars, Kjaer, Klaus Wilbrandt, Larsen, Lars Allan, Faryal, Sanam, Tommerup, Niels, Mahmood Baig, Shahid

“…CDK5RAP2 gene encodes a centrosomal protein, highly expressed in fetal brain and essentially indispensable for its normal development, as biallelic mutations…”
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Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukemia patients is associated with imatinib resistance: implications in the post-imatinib era by Iqbal, Zafar, Aleem, Aamer, Iqbal, Mudassar, Naqvi, Mubashar Iqbal, Gill, Ammara, Taj, Abid Sohail, Qayyum, Abdul, ur-Rehman, Najeeb, Khalid, Ahmad Mukhtar, Shah, Ijaz Hussain, Khalid, Muhammad, Haq, Riazul, Khan, Mahwish, Baig, Shahid Mahmood, Jamil, Abid, Abbas, Muhammad Naeem, Absar, Muhammad, Mahmood, Amer, Rasool, Mahmood, Akhtar, Tanveer

“…BCR-ABL kinase domain mutations are infrequently detected in newly diagnosed chronic-phase chronic myeloid leukemia (CML) patients. Recent studies indicate the…”
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Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family by Farooq, Muhammad, Nakai, Hiroyuki, Fujimoto, Atsushi, Fujikawa, Hiroki, Kjaer, Klaus Wilbrandt, Baig, Shahid Mahmood, Shimomura, Yutaka

“…All TGF-beta family members have a prodomain that is important for secretion. Lack of secretion of a TGF-beta family member GDF5 is known to underlie some…”
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