keyword
https://read.qxmd.com/read/38459354/pkhd1l1-a-gene-involved-in-the-stereocilia-coat-causes-autosomal-recessive-nonsyndromic-hearing-loss
#1
JOURNAL ARTICLE
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, A Eliot Shearer, Barbara Vona
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as necessary for the formation of the cochlear hair-cell stereociliary coat and causes hearing loss in mice and zebrafish when mutated. We sought to determine if biallelic variants in PKHD1L1 also cause hearing loss in humans. Exome sequencing was performed on DNA of four families segregating autosomal recessive nonsyndromic sensorineural hearing loss...
March 9, 2024: Human Genetics
https://read.qxmd.com/read/38430847/ex-vivo-expansion-of-hematopoietic-stem-cells-in-two-three-dimensional-co-cultures-with-various-source-of-stromal-cells
#2
JOURNAL ARTICLE
Nasim Mayeli Fereydani, Hamid Galehdari, Elham Hoveizi, Arash Alghasi, Monireh Ajami
The ex vivo expansion of hematopoietic stem cells, with both high quantities and quality, is considered a paramount issue in cell and gene therapy for hematological diseases. Complex interactions between the bone marrow microenvironment and hematopoietic stem cells reveal the importance of using 2D and 3D coculture as a physiological system simulator in the proliferation, differentiation, and homeostasis of HSCs. Herein, the capacity of mesenchymal stem cells derived from different sources to support the expansion and maintenance of HSPC was compared with each other...
February 19, 2024: Tissue & Cell
https://read.qxmd.com/read/38425718/identification-of-new-variants-in-patients-with-mucopolysaccharidosis-in-consanguineous-iranian-families
#3
JOURNAL ARTICLE
Rezvan Zabihi, Mina Zamani, Majid Aminzadeh, Niloofar Chamanrou, Fatemeh Zahra Kiani, Tahere Seifi, Jawaher Zeighami, Tahere Yadegari, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Gholamreza Shariati, Hamid Galehdari
Introduction: Mucopolysaccharidoses are a group of lysosomal storage disorders that include seven types that are classified based on the enzymes that are disrupted. Malfunction of these enzymes leads to the accumulation of glycosaminoglycans (GAGs) in various tissues. Due to genetic and clinical heterogeneity, diagnosing and distinguishing the different types is challenging. Genetic methods such as whole exome sequencing (WES) and Sanger sequencing are accurate methods for detecting pathogenic variants in patients...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38386308/zscan10-deficiency-causes-a-neurodevelopmental-disorder-with-characteristic-oto-facial-malformations
#4
JOURNAL ARTICLE
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1,500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations, however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes. Next generation sequencing was performed in seven affected individuals with neurodevelopmental delay and dysmorphic features...
February 22, 2024: Brain
https://read.qxmd.com/read/38295473/development-of-a-potent-recombinant-scfv-antibody-against-the-sars-cov-2-by-in-depth-bioinformatics-study-paving-the-way-for-vaccine-diagnostics-development
#5
JOURNAL ARTICLE
Fatemeh Yaghoobizadeh, Mohammad Roayaei Ardakani, Mohammad Mehdi Ranjbar, Mohammad Khosravi, Hamid Galehdari
BACKGROUND: The SARS-CoV-2 has led to a worldwide disaster. Thus, developing prophylactics/therapeutics is required to overcome this public health issue. Among these, producing the anti-SARS-CoV-2 single-chain variable fragment (scFv) antibodies has attracted a significant attention. Accordingly, this study aims to address this question: Is it possible to bioinformatics-based design of a potent anti-SARS-CoV-2 scFv as an alternative to current production approaches? METHOD: Using the complexed SARS-CoV-2 spike-antibodies, two sets analyses were performed: (1) B-cell epitopes (BCEs) prediction in the spike receptor-binding domain (RBD) region as a parameter for antibody screening; (2) the computational analysis of antibodies variable domains (VH /VL )...
January 28, 2024: Computers in Biology and Medicine
https://read.qxmd.com/read/38243601/clarin-2-gene-supplementation-durably-preserves-hearing-in-a-model-of-progressive-hearing-loss
#6
JOURNAL ARTICLE
Clara Mendia, Thibault Peineau, Mina Zamani, Chloé Felgerolle, Nawal Yahiaoui, Nele Christophersen, Samantha Papal, Audrey Maudoux, Reza Maroofian, Pranav Patni, Sylvie Nouaille, Michael R Bowl, Sedigheh Delmaghani, Hamid Galehdari, Barbara Vona, Didier Dulon, Sandrine Vitry, Aziz El-Amraoui
Hearing loss is a major health concern affecting millions of people worldwide with currently limited treatment options. In clarin-2 deficient Clrn2-/- mice, used here as a model of progressive hearing loss, we report synaptic auditory abnormalities in addition to the previously demonstrated defects of hair bundle structure and mechanoelectrical transduction. We sought an in-depth evaluation of viral-mediated gene delivery as a therapy for these hearing-impaired mice. Supplementation with either the murine Clrn2 or human CLRN2 genes preserved normal hearing in treated Clrn2-/- mice...
January 18, 2024: Molecular Therapy
https://read.qxmd.com/read/38128568/biallelic-borcs8-variants-cause-an-infantile-onset-neurodegenerative-disorder-with-altered-lysosome-dynamics
#7
JOURNAL ARTICLE
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino
BLOC-One-Related Complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1-8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c...
December 21, 2023: Brain
https://read.qxmd.com/read/38054405/biallelic-variants-in-slc4a10-encoding-the-sodium-dependent-chloride-bicarbonate-exchanger-ncbe-lead-to-a-neurodevelopmental-disorder
#8
JOURNAL ARTICLE
Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K Huebner, Daniel G Calame, Vinod K Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M Grochowski, Lisa Emrick, Wendy K Chung, Ute A Hellmich, Miriam Schmidts, James R Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A Hübner
PURPOSE: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na+ -dependent HCO3 - import thus mediating net acid extrusion. Slc4a10 knockout (KO) mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, impaired vision, and deafness. METHODS: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders (NDD) and international data sharing, 11 patients from 6 independent families with biallelic variants in SLC4A10 were identified...
December 2, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/37873491/-pkhd1l1-a-gene-involved-in-the-stereociliary-coat-causes-autosomal-recessive-nonsyndromic-hearing-loss
#9
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, A Eliot Shearer, Barbara Vona
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor, given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as necessary for the formation of the cochlear hair-cell stereociliary coat and causes hearing loss in mice and zebrafish when mutated. We sought to determine if biallelic variants in PKHD1L1 also cause hearing loss in humans. Exome sequencing was performed on DNA of three families segregating autosomal recessive moderate to severe nonsyndromic sensorineural hearing loss...
October 9, 2023: medRxiv
https://read.qxmd.com/read/37818795/genotypic-variants-of-the-tetrahydrobiopterin-bh4-biosynthesis-genes-in-patients-with-hyperphenylalaninemia-from-different-regions-of-iran
#10
JOURNAL ARTICLE
Seyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, Gholamreza Shariati, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Mohammad Hamid
BACKGROUND: Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine-4-hydroxylase (PAH) and non-PAH deficiency. The latter is produced by mutations in genes involved in the tetrahydrobiopterin (BH4) biosynthesis pathway and DNAJC12 pathogenetic variants. The BH4 metabolism, including de novo biosynthesis involved genes (i.e., guanosine 5'-triphosphate cyclohydrolase I (GTPCH/GCH1), sepiapterin reductase (SR/SPR), 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS)), and two genes that play roles in cofactor regeneration pathway (i...
October 11, 2023: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/37713627/trappc6b-biallelic-variants-cause-a-neurodevelopmental-disorder-with-trapp-ii-and-trafficking-disruptions
#11
JOURNAL ARTICLE
Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports on TRAPPC6B with detailed clinical and neuroradiologic assessments, and studies on mechanisms of disease, and new types of variants...
September 15, 2023: Brain
https://read.qxmd.com/read/37646054/preparation-purification-and-performance-evaluation-of-polyclonal-antibody-against-sars-cov-2-produced-in-rat
#12
JOURNAL ARTICLE
Fatemeh Yaghoobizadeh, Mohammad Roayaei Ardakani, Mohammad Mehdi Ranjbar, Mohammad Khosravi, Hamid Galehdari
PURPOSE: Among all known human coronaviruses, some viruses (e.g., SARS-CoV-2) cause severe pneumonia or even death. With the regard to its spread and the importance of its rapid identification/treatment, and because pAbs are relatively cheap, able to bind to more sites on antigens and even neutralize them, this study was done for the production and purification of anti-SARS-CoV-2 polyclonal antibodies (pAb) in rats. METHODS: Viral antigen purification was performed by PEG/NaCl precipitation...
July 2023: Advanced Pharmaceutical Bulletin
https://read.qxmd.com/read/37558808/novel-homozygous-variants-in-prorp-expand-the-genotypic-spectrum-of-combined-oxidative-phosphorylation-deficiency-54
#13
JOURNAL ARTICLE
Thomas B Smith, Alessandro Rea, Huw B Thomas, Kyle Thompson, Monika Oláhová, Reza Maroofian, Mina Zamani, Langping He, Saeid Sadeghian, Hamid Galehdari, Nava Shaul Lotan, Tal Gilboa, Kristin C Herman, Thomas J McCorvie, Wyatt W Yue, Henry Houlden, Robert W Taylor, William G Newman, Raymond T O'Keefe
Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing loss and ovarian insufficiency (Perrault syndrome) to leukodystrophy. Here, we report three additional families with homozygous missense PRORP variants with pleiotropic phenotypes. Each missense variant altered a highly conserved residue within the metallonuclease domain...
October 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/37517035/biallelic-med27-variants-lead-to-variable-ponto-cerebello-lental-degeneration-with-movement-disorders
#14
JOURNAL ARTICLE
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Khan Sheraz, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Aslanger Ayça Dilruba, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Utilizing exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17±12...
July 30, 2023: Brain
https://read.qxmd.com/read/37481605/high-incidence-of-azf-duplications-in-clan-structured-iranian-populations-detected-through-y-chromosome-sequencing-read-depth-analysis
#15
JOURNAL ARTICLE
Mogge Hajiesmaeil, Francesco Ravasini, Flavia Risi, Giorgia Magnarini, Anna Olivieri, Eugenia D'Atanasio, Hamid Galehdari, Beniamino Trombetta, Fulvio Cruciani
The ampliconic region of the human Y chromosome consists of large duplicated sequences that can undergo non-allelic homologous recombination (NAHR), resulting in structural rearrangements that may cause infertility, especially when they occur in the azoospermia factor b/c (AZFb/c) region. Although AZF duplications have long been neglected due to the technical limitations of STS-based studies that focused mainly on deletions, recent next generation sequencing (NGS) technologies provided evidence for their importance in fertility...
July 22, 2023: Scientific Reports
https://read.qxmd.com/read/37436383/the-effect-of-platelet-rich-plasma-on-the-osteoblastic-differentiation-of-human-adipose-tissue-derived-mesenchymal-stromal-cells
#16
JOURNAL ARTICLE
Mehrnaz Karimi Darabi, Seyedeh Pardis Pezeshki, Zahra Nazeri, Vahid Zarezadeh, Hossein Azizi Dariuni, Alireza Kheirollah, Hamid Galehdari, Shirin Azizidoost, Maryam Cheraghzadeh
BACKGROUND: Mesenchymal stem cells (MSCs) are cell populations that have the potential to proliferate and differentiate. The process of stem cell differentiation from pluripotent cells to bone cells requires general changes in their pattern of gene expression, the most well-known of which are changes in miRNA-dependent settings. Platelet-enriched plasma (PRP) releases growth factors that are mitogenic to mesenchymal cells and can accelerate the process of osteogenic differentiation. The aim of this study was to investigate the effect of PRP on the expression changes of Let-7a, mir-27a, mir-31, mir-30c, mir-21, and mir-106a during osteogenic differentiation...
July 1, 2023: Clinical Laboratory
https://read.qxmd.com/read/37434930/treatment-of-cutaneous-leishmaniasis-with-intense-pulsed-light-is-it-effective
#17
JOURNAL ARTICLE
Amirhossein Siadat, Hamid Galehdari, Zabiholah Shahmoradi, Fariba Iraji, Azadeh Zolfaghari, Nazli Ansari
BACKGROUND: Cutaneous leishmaniasis (CL) is a common parasitic disorder that is endemic in many countries. There is no completely effective treatment for this condition, but pentavalent antimony compounds are regarded as the main treatment. Different laser types have been used for treatment of CL with variable success but to our best knowledge, there is no published paper regarding use of intense pulsed light (IPL) for treatment of CL. MATERIALS AND METHODS: In this randomized, single-blind clinical trial study, we compared the efficacy of intralesional glucantime alone versus intralesional glucantime plus weekly IPL for treatment of 54 patients with confirmed cutaneous leishmaniasis for a maximum of eight weeks as a randomized, clinical trial...
2023: Advanced Biomedical Research
https://read.qxmd.com/read/37344571/brat1-related-disorders-phenotypic-spectrum-and-phenotype-genotype-correlations-from-97-patients
#18
JOURNAL ARTICLE
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne-Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype...
June 21, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/37258103/seminal-prolactin-is-associated-with-hsp90-transcript-content-in-ejaculated-spermatozoa
#19
JOURNAL ARTICLE
Mehran Dorostghoal, Hamid Galehdari, Masoud Hemadi, Fahimeh Izadi
OBJECTIVE: Evidence indicates that an imbalance between the production of reactive oxygen species and defense ability of antioxidants has clinical significance in the pathophysiology of male infertility. To investigate the role of seminal prolactin (PRL) in the fertilizing capacity of men, the present study evaluated the associations of seminal PRL levels with semen parameters and heat shock protein 90 (HSP90) transcript abundance in ejaculated spermatozoa. METHODS: We assessed seminal PRL levels and the abundance of HSP90 transcripts in ejaculated spermatozoa from normozoospermic donors (n=18) and infertile men (n=18)...
June 2023: Clinical and Experimental Reproductive Medicine
https://read.qxmd.com/read/36579437/whole-exome-sequencing-reveals-several-novel-variants-in-congenital-disorders-of-glycosylation-and-glycogen-storage-diseases-in-seven-patients-from-iran
#20
JOURNAL ARTICLE
Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari
BACKGROUND: Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O- as well as N-glycosylation pathways. CDG patients show a broad spectrum of clinical presentations; many GSD types (PGM1-CDG) have muscle involvement and hypoglycemia. METHODS: We applied WES for all seven patients presenting GSD and CDG symptoms...
December 29, 2022: Molecular Genetics & Genomic Medicine
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