Article
Genetics & Heredity
Claudia Mandato, Maria Anna Siano, Lucia Nazzaro, Monica Gelzo, Paola Francalanci, Francesca Rizzo, Ylenia D'Agostino, Manuela Morleo, Simona Brillante, Alessandro Weisz, Brunella Franco, Pietro Vajro
Summary: A 5-year-old girl was diagnosed with a novel form of high GGT-PFIC phenotype with neonatal onset associated with ZFYVE19 mutation and a coincidental hereditary sitosterolemia. This case highlights the importance of WES in identifying new causative genes for undiagnosed cholestasis in children, expanding our understanding of the pathophysiology.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Endocrinology & Metabolism
Anello Marcello Poma, Agnese Proietti, Elisabetta Macerola, Diana Bonuccelli, Marco Conti, Alessandra Salvetti, Vincenza Dolo, Andrea Chilla, Alessio Basolo, Ferruccio Santini, Antonio Toniolo, Fulvio Basolo
Summary: This study found that the pituitary glands of lethal cases of COVID-19 had the SARS-CoV-2 genome and antigens, confirming viral infection in the pituitary gland. Activation of type I interferon signaling and increased levels of neutrophil and cytotoxic cell scores were observed in virus-positive glands, while mRNA transcripts of pituitary hormones and pituitary developmental/regulatory genes were suppressed in all COVID-19 cases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Medicine, General & Internal
Patryk Lipinski, Elzbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elzbieta Jurkiewicz, Rafal Ploski, Joanna Pawlowska, Irena Jankowska
Summary: This study presents the clinical, pathological and molecular report of six patients with DCDC2 biallelic pathogenic variants. All patients presented with cholestatic jaundice and elevated GGT, and one patient also had features of renal disease. Three different variants in the DCDC2 gene were identified. The main clinical presentation of DCDC2-related ciliopathy was neonatal sclerosing cholangitis.
Article
Clinical Neurology
Andrei Ionut Cucu, Claudia Florida Costea, Antonio Perciaccante, Simon T. Donell, Raffaella Bianucci
Summary: This article reviews the historical development of anatomy, physiology, and surgical treatment of the pituitary gland, from ancient times to modern surgical techniques. It explores the research on its functions and the advancements in surgical methods.
WORLD NEUROSURGERY
(2023)
Article
Cell Biology
Bowen Lai, Heng Jiang, Yuan Gao, Xuhui Zhou
Summary: Cilia are conserved structures in eukaryotic cells and their dysfunction can lead to various diseases classified as ciliopathies. Many skeletal phenotypes have been discovered in ciliopathies, including abnormal bone and cartilage development. Mutations in genes encoding cilia core components have been found in skeletal ciliopathies. Signaling pathways associated with cilia and skeleton development are important for these diseases. This review summarizes the structure of cilia, skeletal ciliopathies, and the relevant signaling pathways, with the aim of developing potential therapies.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2023)
Article
Gastroenterology & Hepatology
Aline Azabdaftari, Henrike L. L. Sczakiel, Magdalena Danyel, Benno Kohlmaier, Christoph J. J. Mache, Amelie Stalke, Eva-Doreen Pfister, Julia Thumfart, Stephan Henning, A. S. Knisely, Philip Bufler
Summary: Neonatal sclerosing cholangitis (NSC) is a liver disease associated with biliary fibrosis that often requires liver transplantation in childhood. Recent studies have discovered variants in the DCDC2 gene, which is involved in syndromic disease and NSC. This report presents four patients with hepatobiliary disease associated with novel variants in the DCDC2 gene, expanding the phenotypic spectrum of this disease. Testing for DCDC2 expression and variants should be considered in the evaluation of unknown cholangiopathy in childhood.
LIVER INTERNATIONAL
(2023)
Article
Genetics & Heredity
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou
Summary: This study reports the association between TTC12 variants and ciliopathies in a Chinese population and identifies TTC21B as a candidate gene for biliary ciliopathy. The findings demonstrate the impact of these gene mutations on cilia structure and function.
Article
Veterinary Sciences
Olga Travetti, Crystal White, Julien Labruyere, Mark Dunning
Summary: This study aimed to characterize MRI findings of pituitary glands in dogs without clinical signs of pituitary disease. Pituitary cystic lesions were the most common, with a significantly increased incidence of the partial empty sella in male dogs. Up to 13% of dogs may have MRI pituitary lesions, with significant associations between MRI field strength and certain types of pituitary lesions.
VETERINARY RADIOLOGY & ULTRASOUND
(2021)
Article
Urology & Nephrology
Laura R. Claus, Chuan Chen, Jennifer Stallworth, Joshua L. Turner, Gisela G. Slaats, Alexandra L. Hawks, Holly Mabillard, Sarah R. Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J. Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Eric Olinger, Martin Larsen, Jens Michael Hertz, Marc R. Lilien, Lena Obeidova, Tomas Seeman, Hillarey K. Stone, Larissa Kerecuk, Mihai Gurgu, Fjodor A. Yousef Yengej, Carola M. E. Ammerlaan, Maarten B. Rookmaaker, Christian Hanna, R. Curtis Rogers, Karen Duran, Edith Peters, John A. Sayer, Gijs van Haaften, Peter C. Harris, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet
Summary: This study identifies NEK8 as a disease gene for autosomal dominant polycystic kidney disease (ADPKD) and suggests that specific heterozygous missense variants in the NEK8 kinase domain have a dominant-negative effect on the disease.
KIDNEY INTERNATIONAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Maite Lewin, Christophe Desterke, Catherine Guettier, Pierre-Jean Valette, Helene Agostini, Stephanie Franchi-Abella, Lionel Arrive, Anita Paisant, Philippe Petit, Olivier Soubrane, Didier Samuel, Rene Adam, Valerie Vilgrain, Benoit Gallix, Marie-Pierre Vullierme
Summary: This study aimed to assess the MRCP features of Caroli disease, finding that diffuse CD patients often had congenital hepatic fibrosis and a central dot sign, while localized CD patients were commonly associated with intrahepatic biliary calculi and left liver atrophy.
AMERICAN JOURNAL OF ROENTGENOLOGY
(2021)
Article
Pediatrics
Anil Colaklar, O. Suat Fitoz
Summary: This study aimed to provide normal reference values for pituitary volumes in the pediatric population using 3D MRI data and compared the volumetric data measured through 3D images with the mathematical volumes obtained by the ellipsoid formula from 2D images. The study found that pituitary gland volumes gradually increased with age, with a more pronounced growth spurt during early puberty in girls. Additionally, a strong positive correlation was observed between the 2D calculated volumes and 3D measured volumes in both sexes.
PEDIATRIC RADIOLOGY
(2022)
Review
Endocrinology & Metabolism
Romain Fontaine, Muhammad Rahmad Royan, Christiaan Henkel, Kjetil Hodne, Eirill Ager-Wick, Finn -Arne Weltzien
Summary: This review discusses the discovery history, technical limitations, origin, and biological role of multi-hormonal cells in the vertebrate pituitary, providing a comprehensive review of pituitary plasticity.
FRONTIERS IN NEUROENDOCRINOLOGY
(2022)
Article
Urology & Nephrology
Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano
Summary: This study revealed a high prevalence of renal dysfunction in patients with Bardet-Biedl syndrome, with urine concentrating defect potentially serving as a predictor of disease progression. However, the pathophysiology of hyposthenuria may not be directly linked to specific tubule dysfunctions.
CLINICAL KIDNEY JOURNAL
(2021)
Review
Biochemistry & Molecular Biology
Jin-Cheol Kim, Won-Sik Shim, In-Suk Kwak, Dong-Hun Lee, Jin-Seo Park, So-Yeon Lee, Seok-Young Kang, Bo-Young Chung, Chun-Wook Park, Hye-One Kim
Summary: This article summarizes the causes, pathophysiology, and appropriate treatments of pruritus caused by systemic diseases, with a focus on chronic kidney disease and cholestatic liver disease. It contributes to improving the quality of life for patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biology
Xiaoyu Tian, Huijie Zhao, Jun Zhou
Summary: The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome. An improved understanding of BBSome-mediated biological events and molecular mechanisms is expected to help advance the development of diagnostic and therapeutic approaches for BBSome-related diseases.
Article
Endocrinology & Metabolism
Avivit Brener, Leonid Zeitlin, Yael Wilnai, Ohad S. Birk, Talya Rosenfeld, Efrat Chorna, Yael Lebenthal
Summary: This study describes three unique cases of childhood-onset diabetes where skeletal manifestations led to the identification of rare types of diabetes. The results demonstrate that understanding the precise genetic cause for the clinical manifestations can predict phenotypic presentations and enhance clinical outcomes.
ACTA DIABETOLOGICA
(2022)
Article
Genetics & Heredity
Navneesh Yadav, Laxmi Kirola, Thenral S. Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev, Ohad S. Birk, Neerja Gupta, Prahlad Balakrishnan, Manisha Jana, Meena Gupta, Madhulika Kabra, Bittianda Kuttapa Thelma
Summary: This study identified a novel CENPJ mutation associated with primary microcephaly, expanding the clinical spectrum of CENPJ-related disorders. The functional analysis revealed the impact of this mutation on CENPJ function and the process of mitosis, providing new insights into splice site biology and potential implications for ASO-based therapies.
ANNALS OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Summary: This article describes an extremely rare syndrome caused by genetic factors. The patients presented with severe developmental delay and various physical abnormalities during infancy, accompanied by intellectual disability. A disease-associated gene locus was identified through genome-wide linkage analysis.
Article
Genetics & Heredity
Sarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser, Noam Hadar, Anna Bakhrat, Ismael Alshafee, Maya Gombosh, Nadav Agam, Libe Gradstein, Zamir Shorer, Raz Zarivach, Marina Eskin-Schwartz, Uri Abdu, Ohad S. Birk
Summary: This study reports an autosomal recessive syndrome characterized by developmental delay, intellectual disability, and spastic tetraplegia, and identifies a disease-associated variant in the 26S proteasome subunit.
Article
Immunology
Eyal Kristal, Amit Nahum, Galina Ling, Arnon Broides, George Shubinsky, Marina Eskin-Schwartz, Noam Hadar, Omri Progador, Ohad Birk
Summary: Tricho-hepato-enteric syndrome is a rare syndromic enteropathy characterized by dysmorphism, diarrhea, failure to thrive, hair abnormalities, liver disease, and immunodeficiency. A patient with this syndrome was found to have extremely elevated IgM levels and low IgG levels, a manifestation that has not been previously described in THES patients.
IMMUNOLOGIC RESEARCH
(2022)
Article
Genetics & Heredity
Yuval Yogev, Jacob Bistritzer, Yair Sadaka, Analia Michaelovsky, Yuval Cavari, Yael Feinstein, Munir Abu-Madegem, Yakov Fellig, Ohad Wormser, Max Drabkin, Daniel Halperin, Ohad S. Birk
Summary: This study describes a severe case of congenital myopathy with symptoms including bilateral clubfeet, delayed motor development, and hypotonia. The study also uncovers the possible association between this disease and tongue fasciculations and cerebral atrophy. The use of comprehensive genetic analysis and RNA-based studies facilitates rapid and cost-effective diagnosis of congenital myopathies.
MOLECULAR DIAGNOSIS & THERAPY
(2022)
Article
Pediatrics
Odeya David, Rotem Agur, Rosa Novoa, David Shaki, Dganit Walker, Lior Carmon, Marina Eskin-Schwartz, Ohad S. Birk, Galina Ling, Ruth Schreiber, Neta Loewenthal, Alon Haim, Eli Hershkovitz
Summary: This study retrospectively analyzed the medical records of 63 HRD syndrome patients and found that HRD is a severe multisystem disease. The mortality rate was 52%, with infectious diseases being the main cause of death. The study also identified multiple comorbidities, including brain anomalies, seizures, nephrocalcinosis and/or nephrolithiasis, and eye anomalies.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, Eyal Kristal, George Shubinsky, Galina Ling, Idan Cohen, Michael Geylis, Amit Nahum, Yuval Yogev, Ohad S. Birk
Summary: Hemolytic-uremic syndrome (HUS) is a common cause of acute kidney injury in children, mostly caused by Shiga toxin-producing E. Coli. Streptococcus pneumonia HUS (pHUS) is caused by bacterial neuraminidase A exposing masked O-glycan sugar residues on erythrocytes. Atypical HUS (aHUS) is a genetic form of the disease. We have discovered a novel X-linked form of aHUS caused by a missense mutation in C1GALT1C1, encoding a T-synthase chaperone essential for the formation of the T antigen on erythrocytes. Our findings suggest a shared molecular basis of aHUS and pHUS, highlighting therapeutic opportunities.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Endocrinology & Metabolism
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M. Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S. Birk
Summary: Hyperinsulinism/hyperammonemia (HI/HA) syndrome can be caused by gain-of-function mutations in GLUD1 or biallelic mutations in SLC25A36. The mutations result in hyperactivation of glutamate dehydrogenase and reduced activity of pyrimidine nucleotide carrier 2. This study confirms the role of SLC25A36 mutations in HI/HA syndrome and provides further understanding of the disease phenotype.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Noam Hadar, Ginat Narkis, Shirly Amar, Marina Varnavsky, Glenda Calniquer Palti, Amit Safran, Ohad S. Birk
Summary: In this study, a compact STR database, including the T2T reference genome, was constructed for three reference genomes. The advantages of T2T over hg19 and hg38 in localizing STRs were demonstrated, and unique propensities of TGGAA repeats in Robertsonian translocations, chromosome 16q11.2, and 9q12 were identified. Furthermore, a novel web application called PGTailor was developed using T2T and STRavinsky, greatly facilitating the design of STR-based PGT tests in a matter of minutes.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Alon Peled, Ofer Sarig, Janan Mohamad, Marina Eskin-Schwartz, Dan Vodo, Ron Bochner, Natalya Malchin, Ofer Isakov, Noam Shomron, Gilad Fainberg, Marta Bertolini, Ralf Paus, Eli Sprecher
Summary: This study identified a novel mutation in the ALX4 gene that causes FND2, leading to abnormal protein structure and enhanced functional effects. ALX4 negatively regulates the Wnt/β-catenin pathway, and alterations in this pathway may contribute to the ectodermal manifestations in FND2.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Marina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky, Ilana Aminov, Anna Pikovsky, Noam Hadar, Eyal Kristal, Galina Ling, Idan Cohen, Uri Zilberman, Ohad S. Birk
Summary: The study describes seven ILVASC patients carrying the CLDN1 p.Arg81His variant and expands the phenotypic spectrum associated with this variant to include teeth, hair, and liver/bile duct involvement. Through transmission electron microscopy and haplotype analysis, the study provides evidence for the founder variant status of the p.Arg81His variant in Moroccan Jews.
Article
Endocrinology & Metabolism
David Shaki, Marina Eskin-Schwartz, Noam Hadar, Emily Bosin, Lior Carmon, Samuel Refetoff, Eli Hershkovitz, Ohad S. Birk, Alon Haim
Summary: This study identified and characterized the carrier rate of the p.R75G TSHB variant in euthyroid Bene Israel Indian Jews, revealing a high prevalence of this variant in this population. Additionally, a haplotype block shared by Bene Israel and individuals of South Asian origin near the TSHB gene was detected, suggesting a possible founder origin and shared ancestry of carriers of the R75G TSHB variant.
EUROPEAN THYROID JOURNAL
(2022)
Article
Ophthalmology
Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen
Summary: This study investigated and compared the phenotypic spectrum of Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome) with albinism. The results showed that FHONDA syndrome has a narrower phenotypic spectrum compared to albinism, characterized by moderately to severely reduced visual acuity, nystagmus, severe foveal hypoplasia, and misrouting. The absence of hypopigmentation suggests that these abnormalities are not caused by lack of melanin.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
