Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Naseebullah Kakar"'
Autor:
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A. Verrijn Stuart, Jacques C. Giltay, Koen L. van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C. Hornig
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production. Classically,
Externí odkaz:
https://doaj.org/article/5524b49d61884a60b96670d591ac069f
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
Abstract Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by
Externí odkaz:
https://doaj.org/article/334e8e58bdef4ab3be75b7c0dc035b67
Autor:
Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionIntellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients and eventually reduces their IQ level below 70.MethodsThe current genetic study ascertained
Externí odkaz:
https://doaj.org/article/6f43da395223452583503bcd265ce47a
Autor:
Naseebullah Kakar, Guntram Borck, Peter Nürnberg, Abu Saeed Hashmi, Gudrun Nürnberg, Alexander E Volk, Christian Kubisch, Deborah J. Morris-Rosendahl, Ingrid Goebel, Muhammad Wasim, Shakeela Daud, Tahir Yaqub, Jamil Ahmad
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 17:260-265
Biallelic mutations of ALS2 cause a clinical spectrum of overlapping autosomal recessive neurodegenerative disorders: infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4f5a0b13f14865aa948aa448b57ba1
https://doi.org/10.3109/21678421.2015.1125501
https://doi.org/10.3109/21678421.2015.1125501
Autor:
Rüstem Yilmaz, Janine Altmüller, Charles E. Schwartz, Naseebullah Kakar, Peter Nürnberg, Naeimeh Tayebi, Wing Lee Chan, James U. Bowie, Holger Thiele, Hans van Bokhoven, Izabela Harabula, Stefan Mundlos, Catherine Leettola, Ricarda Flöttmann, Malte Spielmann, Lars Wittler, Christian Kubisch, Gudrun Nürnberg, Nadine Sowada, Darío G. Lupiáñez, Denise Horn, Jamil Ahmad, Guntram Borck
Publikováno v:
Genome Research, 26, 2, pp. 183-91
Genome research, vol 26, iss 2
Genome Research, 26, 183-91
Genome Research
Genome research, vol 26, iss 2
Genome Research, 26, 183-91
Genome Research
Contains fulltext : 167787.pdf (Publisher’s version ) (Open Access) The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e822a039ca9e232418cc5ee362e0eb8
https://hdl.handle.net/2066/167787
https://hdl.handle.net/2066/167787
Autor:
Dulce, Lima Cunha, Omar Mohammed, Alakloby, Robert, Gruber, Naseebullah, Kakar, Jamil, Ahmad, Salem, Alawbathani, Roswitha, Plank, Katja, Eckl, Birgit, Krabichler, Janine, Altmüller, Peter, Nürnberg, Johannes, Zschocke, Guntram, Borck, Matthias, Schmuth, Adnan S, Alabdulkareem, Kholood, Abdulaziz Alnutaifi, Hans Christian, Hennies
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95a2c7ab05d6912a3a388ed5489bf6c7
https://pubmed.ncbi.nlm.nih.gov/30600594
https://pubmed.ncbi.nlm.nih.gov/30600594
Autor:
Fowzan S. Alkuraya, Harald Bode, Nadine Sowada, Holger Thiele, Guntram Borck, Muddathir H Hamad, Rüstem Yilmaz, Stefan T. Arold, Naseebullah Kakar, Mais Hashem
Publikováno v:
Human genetics. 136(11-12)
Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63de0f01f48d2249dd56d4b41c036257
https://pubmed.ncbi.nlm.nih.gov/29090338
https://pubmed.ncbi.nlm.nih.gov/29090338
Autor:
Eva Decker, Christian Kubisch, Naseebullah Kakar, Denise Horn, Guntram Borck, Carsten Bergmann, Nadine Sowada, Jamil Ahmad
Publikováno v:
American journal of medical genetics. Part A. 176(2)
Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different cil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd971a07d02ca353164e2f9a9f842f42
https://pubmed.ncbi.nlm.nih.gov/29271569
https://pubmed.ncbi.nlm.nih.gov/29271569
Autor:
Jameela Shuja, Abdul Rehman, Muhammad Arif Awan, Abdul Hameed Baloch, Dost Mohammad Baloch, Jamil Ahmad, Nafeesa Raheem, Akhtar Ali, Adeel Ahmad, Saeeda Rasheed, Muhammad Wasim, Shakeela Daud, Muhammad Luqman, Naseebullah Kakar, Mohammad Alam Mengal, Hafiz Khush Naseeb
Publikováno v:
Molecular Biology Reports. 41:1103-1107
CHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05873fe0cbb6a799c285953c9b2da98
https://doi.org/10.1007/s11033-013-2956-x
https://doi.org/10.1007/s11033-013-2956-x
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Autor:
Alexandra Deichsel, Guntram Borck, Christian Bassir, Sandra C. Doelken, Eva Klopocki, Jamil Ahmad, Ulrike Wille, Thomas D. Mueller, Naseebullah Kakar, Christian Kubisch, Stefan Mundlos, Petra Seemann, Randi Koll, Luitgard Graul-Neumann, Valérie Cormier-Daire
Publikováno v:
European Journal of Human Genetics. 22:726-733
Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b4123caa8a69268b99f9b9ddda1361
https://doi.org/10.1038/ejhg.2013.222
https://doi.org/10.1038/ejhg.2013.222