Results 11 to 20 of about 122,027 (274)

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis

Frontiers in Immunology, 2022
The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes.
Oded Shamriz, Oded Shamriz, Naseem Zahalka, Amos J. Simon, Amos J. Simon, Atar Lev, Atar Lev, Ortal Barel, Ortal Barel, Nofar Mor, Nofar Mor, Yuval Tal, Michael J. Segel, Michael J. Segel, Raz Somech, Raz Somech, Hagith Yonath, Hagith Yonath, Hagith Yonath, Ori Toker   +19 more
doaj   +1 more source

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Frontiers in Genetics, 2022
A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we
Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Eva Morava, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker, Iván Martínez-Duncker   +12 more
doaj   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, 2020
Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed.
Harmon Khela, Margaret A. Kenna
doaj   +1 more source

Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

Medicina, 2020
The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and ...
Francesco Calì, Maurizio Elia, Mirella Vinci, Luigi Vetri, Edvige Correnti, Emanuele Trapolino, Michele Roccella, Francesca Vanadia, Valentino Romano   +8 more
doaj   +1 more source

Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease

Annals of Indian Academy of Neurology, 2014
Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient.
Ashok Verma
doaj   +1 more source

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in Genetics, 2022
Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right patterning,
Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts   +20 more
doaj   +1 more source

A genome wide association study for lung function in the Korean population using an exome array [PDF]

The Korean Journal of Internal Medicine, 2021
Background/Aims Lung function is an objective indicator of diagnosis and prognosis of respiratory diseases. Many common genetic variants have been associated with lung function in multiple ethnic populations. We looked for coding variants associated with
Kyu-Sun Lee, Kun Hee Kim, Yeon-Mok Oh, Buhm Han, Woo Jin Kim   +4 more
doaj   +1 more source