Results 41 to 50 of about 35,482 (247)

Analysis of children with familial short stature: who should be indicated for genetic testing?

Endocrine Connections, 2023
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected.
Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova   +12 more
doaj   +1 more source

Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases

Frontiers in Immunology, 2019
Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of both monogenic and polygenic autoinflammatory conditions have been identified during ...
Ignasi Figueras-Nart, José M. Mascaró, Xavier Solanich, José Hernández-Rodríguez   +3 more
doaj   +1 more source

#270 : Single-Center Retrospective Cohort Analysis: Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) for Monogenic Nephropathy

Fertility & Reproduction, 2023
Background and Aims: Hereditary nephropathy, including monogenic nephropathy, is an important cause of renal insufficiency and end-stage renal disease. Therefore, genetic blockade is necessary for couples with monogenic nephropathy.
Xinyu Liu, Qian Zhang, Qing Zhao, Kexin Cao, Wei Zhou, Tianxiang Ni, Shuzhen Sun, Junhao Yan   +7 more
doaj   +1 more source

Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review

Journal of Human Reproductive Sciences, 2021
Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent in situ hybridisation for a ...
Firuza R Parikh, Arundhati S Athalye, Dhananjaya K Kulkarni, Rupesh R Sanap, Suresh B Dhumal, Dhanashree J Warang, Dattatray J Naik, Prochi F Madon   +7 more
doaj   +1 more source

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel

Scientific Reports, 2023
Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases.
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea, Emily E. Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M. Vittorio, Lorna M. Dove, Maddalena Marasa, Timothy C. Wang, Elizabeth C. Verna, Howard J. Worman, Ali G. Gharavi, David B. Goldstein, Julia Wattacheril   +20 more
doaj   +1 more source

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Journal of Developmental Biology, 2022
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues.
Vasiliki Karalis, Kathleen E. Donovan, Mustafa Sahin   +2 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert CommitteeIUIS inborn errors of immunity 2024 update [PDF]

Journal of Human Immunity
Here we provide a comprehensive update to the classification of monogenic immune disorders.
M. Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, Stuart G. Tangye   +16 more
doaj   +1 more source

Monogenic neurological disorders of sphingolipid metabolism

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2015
Sphingolipids comprise a wide variety of molecules containing a sphingoid long-chain base that can be N-acylated. These lipids are particularly abundant in the central nervous system, being membrane components of neurons as well as non-neuronal cells. Direct evidence that these brain lipids play critical functions in brain physiology is illustrated by ...
Sabourdy, Frédérique, Astudillo, Leonardo, Colacios, Céline, Dubot, Patricia, Mrad, Marguerite, Ségui, Bruno, Andrieu-Abadie, Nathalie, Levade, Thierry   +7 more
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source