Article
Ophthalmology
Tyler A. Pfister, Wadih M. Zein, Catherine A. Cukras, Hatice N. Sen, Ramiro S. Maldonado, Laryssa A. Huryn, Robert B. Hufnagel
Summary: This study suggests that arVMD is part of a continuum of autosomal recessive and dominant BEST1-related retinopathies, with detailed clinical and molecular assessments revealing novel variants and clinical features. Attempts to differentiate recessively and dominantly inherited BEST1-related diseases through genetic analysis did not yield significant differences.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Genetics & Heredity
Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K. Verbakel, Panagiotis Sergouniotis, Guylene Le Meur, Claire-Marie Dhaenens, Helene Naacke, Almudena Avila-Fernandez, Carel B. Hoyng, Jeroen Klevering, Beatrice Bocquet, Agathe Roubertie, Audrey Senechal, Sandro Banfi, Agnes Muller, Christian L. Hamel, Graeme C. Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gael Manes
Summary: This study reveals a previously unreported association between monoallelic or biallelic IMPG1 variants and RP, as well as the identification of new genetic variants associated with this gene. The clinical diagnosis of the IMPG1 retinopathy-associated variant has been revised from benign concentric annular macular dystrophy to RP with early macular involvement.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Psychology, Multidisciplinary
Camelia Ibrahim-Dwairy, Liat Kulik
Summary: The study reveals that single Palestinian women in Israel face complex lives characterized by social exclusion and stressful situations. There are significant connections between women's perceived stress and their sense of coherence, family support, and age.
CURRENT PSYCHOLOGY
(2022)
Review
Genetics & Heredity
Amber Hames, Sophia Khan, Clara Gilliland, Lucy Goldman, Hillary W. H. Lo, Kevin Magda, Justine Keathley
Summary: Mendel's Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles. However, existing evidence challenges this notion. Research on carriers of autosomal recessive conditions suggests that they may exhibit attenuated symptoms and metabolic alterations.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Paraskevi Goggolidou, Taylor Richards
Summary: ARPKD is a genetic kidney disease characterized by bilateral enlargement of cystic kidneys and liver fibrosis. The severity varies, with a high mortality rate in the early stage but good prognosis if surviving the first year. PKHD1 and DZIP1L are the two known genes causing ARPKD, and there may be other genetic modifiers and phenocopies influencing diagnosis.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Geography
Ilan Shdema, Deborah G. Martin, Kahled Abu-Asbeh
Summary: The study discusses the impact of exposure to the majority population on the sense of place identity among ethnic minority groups living in ethnic enclaves. While exposure to the Jewish majority reduces place identity among Arabs in Israel, it also has complex effects on the formation of place identity. Factors such as quality of life, including infrastructure maintenance and community opportunities, have a stronger relationship with place identity than overt political dimensions.
Article
Genetics & Heredity
Joel Zlotogora
Summary: A systematic review found 47 shared variants responsible for autosomal recessive disorders among Muslim Arabs in Israel and Saudi Arabia, many of which are known founder variants in both populations. The common variants are likely ancient and have a Bedouin origin possibly linked to migration from the Saudi Peninsula. It is possible that a similar phenomenon occurred along the route of Bedouin migrations and some of these variants are present in corresponding populations.
Article
Clinical Neurology
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Dario Ortigoza-Escobar, Aisha M. AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J. Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel, Angela Abicht, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M. Strom, Hanns Lochmueller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H. Zackai, Beth A. Keena, Cara M. Skraban, Seth Berger, Erin H. Andrew, Elham Rahimian, Michelle M. Morrow, Ingrid M. Wentzensen, Francisca Millan, Lindsay B. Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M. Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R. Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R. Lupski, Jan Senderek, John Christodoulou, Wendy K. Chung, Rose Goodchild, Amaka C. Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Summary: This study systematically assesses the characteristics of 56 individuals with autosomal-recessive TOR1A-related disease, including their clinical, radiological, and molecular features. The study defines the phenotypic spectrum, identifies core clinical symptoms, and highlights predictors for disease severity and survival.
Article
Nutrition & Dietetics
Ora Peleg
Summary: This study aimed to explore differences in levels of differentiation of self and emotional distress between diabetic and healthy participants, as well as investigate cultural differences within these metrics. The findings revealed that diabetics reported more severe depressive symptoms, higher levels of anxiety and emotional cutoff, and lower levels of I-position compared to healthy individuals. Arabs demonstrated higher levels of emotional cutoff, anxiety, and depressive symptoms, and lower levels of I-position compared to Jews.
Article
Genetics & Heredity
Talya Millo, Antonio Rivera, Alexey Obolensky, Devora Marks-Ohana, Mingchu Xu, Yumei Li, Enosh Wilhelm, Prakadeeswari Gopalakrishnan, Menachem Gross, Boris Rosin, Mor Hanany, Andrew Webster, Anna Maria Tracewska, Robert K. Koenekoop, Rui Chen, Gavin Arno, Ora Schueler-Furman, Susanne Roosing, Eyal Banin, Dror Sharon
Summary: This study investigates the clinical and genetic aspects of solute carrier (SLC) genes in inherited retinal diseases (IRDs). Pathogenic variants in SLC genes were identified through exome sequencing data analysis. The study identifies candidate novel IRD genes, establishes the pathogenicity of SLC37A3, and provides further evidence of SLC4A7 as IRD genes. The phenotypic spectrum of SLC24A1 is extended and its association with ARRP is suggested to be more common than previously reported.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl
Summary: Mutations in MCM7 are identified as a novel cause of autosomal recessive primary microcephaly (MCPH) and intellectual disability, highlighting its crucial role in nervous system development. The expression pattern of MCM7 is consistent in mouse and human cells, affecting cell viability and proliferation.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Medicine, Research & Experimental
Niccolo E. Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, Apostolos Papandreou, Audrey Soo, Reet Rein, Liis Kadastik-Eerme, Sanna Puusepp, Karit Reinson, Tiiu Tomberg, Hasmet Hanagasi, Thomas Gasser, Kailash P. Bhatia, Manju A. Kurian, Ebba Lohmann, Katrin Ounap, Christian Rosenmund, Thomas C. Sudhof, Nicholas W. Wood, Dimitri Krainc, Claudio Acuna
Summary: The study found that variants in the TSPOAP1 gene can lead to autosomal recessive dystonia in 7 patients from different families. The results indicate that these variants affect neurotransmission, potentially leading to the development of dystonia.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya
Summary: This study identifies three novel disease-causing variants in the COL4A4 gene that are recurrent among Jews of Bukharian ancestry and cause Alport syndrome in both dominant and recessive autosomal inheritance patterns.
Article
Multidisciplinary Sciences
Serdal Gungor, Yavuz Oktay, Semra Hiz, Alvaro Aranguren-Ibanez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Ozgor, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Topf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Summary: The study identified a homozygous mutation in TUBGCP2 in two siblings from a consanguineous Turkish family, causing disruption of the interaction between GCP2 and GCP3. These findings link the gamma-tubulin complex to the development of the central nervous system in humans through functional and proteomic studies.
Review
Pharmacology & Pharmacy
Sheila I. Pena-Corona, Stephany Celeste Gutierrez-Ruiz, Ma de los Dolores Campos Echeverria, Hernan Cortes, Manuel Gonzalez-Del Carmen, Gerardo Leyva-Gomez
Summary: Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin disorder that significantly affects patients' quality of life. Although there are existing treatments, the search for new therapeutic strategies, particularly drug repurposing, is necessary.
FRONTIERS IN PHARMACOLOGY
(2023)