Article
Genetics & Heredity
Liyan Qiu, Caimin Li, Guiyun Zheng, Tuyin Yang, Fang Yang
Summary: This study identified a 120 kb microduplication containing only the BTRC gene in a Chinese family affected by SHFM3 using trio clinical exome sequencing. Further confirmation showed that the duplication co-segregated with SHFM phenotypes, and the affected individual had significantly higher levels of BTRC mRNA transcription in lymphocytes. This study provides evidence for the involvement of abnormal BTRC expression in limb malformation and suggests that next generation sequencing can offer more precise diagnosis for SHFM3 patients.
Article
Genetics & Heredity
Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin, Lizhou Sun
Summary: This study identified a novel pathogenic variant in the TP63 gene as the genetic cause of split-hand/foot malformation in a Chinese family. The variant may affect the structure of a key functional domain of the p63 protein, expanding the TP63 variant spectrum.
BMC MEDICAL GENOMICS
(2022)
Article
Genetics & Heredity
Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E. Heath
Summary: Introduction: FATCO is a rare skeletal dysplasia with unknown genetic cause. A case study was conducted on a fetus with severe malformations, leading to the diagnosis of FATCO through exome sequencing. Literature review found information on 43 FATCO patients, mostly diagnosed postnatally.
FRONTIERS IN GENETICS
(2023)
Article
Cell Biology
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Summary: Split hand/foot malformation (SHFM) is a rare limb abnormality characterized by finger/toe clefting. This study identified three novel variants in the gene encoding PRDM1, a transcription factor, in families with SHFM. Analysis demonstrated that these variants disrupt important functional domains of PRDM1 and affect its regulatory role in limb development.
DISEASE MODELS & MECHANISMS
(2023)
Article
Genetics & Heredity
Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang
Summary: The study identified a translocation breakpoint disrupting TP63 in three Chinese patients with bilateral hand and foot malformation. This finding expands our understanding of the genetic risk factors for SHFM and may be valuable for genetic counseling and prenatal diagnosis in affected families.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Anna Sowinska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer
Summary: This study reports on seven patients from five unrelated Polish families affected by variable symptoms of the SHFM1 spectrum. By using different genetic techniques, researchers identified rearrangements involving the 7q21.3 or 7q21.2-q21.3 loci in these patients. Additionally, the study observed a patient with both SHFM1 and BAGOS-like phenotypes, which is a novel finding.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Multidisciplinary Sciences
Giulia Cova, Juliane Glaser, Robert Schoepflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Summary: In this study, the functional consequences of SHFM3-associated rearrangements on chromatin conformation and gene expression were investigated in transgenic mice. It was found that the LBX1/FGF8 locus consists of two interacting regulatory domains. SHFM3-associated duplications and inversions led to restructuring of the chromatin architecture and ectopic activation of the Lbx1 and Btrc genes in the AER. These findings provide insights into the molecular mechanism and conceptual framework underlying SHFM3.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uira S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E. L. M. Vissers
Summary: In this study, a family with isolated X-linked SHFM was investigated, and a causative variant was identified after a 20-year diagnostic journey. Multiple techniques were used to detect a complex structural variant that may disrupt the regulatory framework on the X chromosome and cause SOX3 misexpression, leading to SHFM in this family.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)
Article
Acoustics
A. Dall'Asta, T. Stampalija, F. Mecacci, R. Ramirez Zegarra, S. Sorrentino, M. Minopoli, C. Ottaviani, I Fantasia, M. Barbieri, F. Lisi, S. Simeone, R. Castellani, A. Fichera, G. Rizzo, F. Prefumo, T. Frusca, T. Ghi
Summary: This study described the incidence, clinical features, and perinatal outcomes of late-onset fetal growth restriction (FGR) associated with genetic syndrome or aneuploidy, structural malformation, or congenital infection. The study found that most cases of late-onset FGR with anomalies are associated with structural malformations rather than genetic abnormalities or infections.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Muhammad Bilal, Tobias B. Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad
Summary: Split hand and foot malformation (SHFM), characterized by median cleft of the hand and foot, is a rare limb deformity. Exome and Sanger sequencing identified two causative variants in the WNT10B gene in affected members from two families with non-syndromic SHFM. This discovery increases our understanding of the genetic basis of developmental disorders and provides valuable insights into the molecular mechanisms regulating limb development.
MOLECULAR SYNDROMOLOGY
(2023)
Article
Genetics & Heredity
Magdalena Socha, Anna Sowinska-Seidler, Uira Souto Melo, Bjort K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schopflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K. A. Sreenivasan, Cristina Lopez, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, Aleksander Jamsheer
Summary: Research shows that gene duplications play a significant role in limb malformations, with these malformations primarily caused by gene dosage effects rather than regulatory position effects.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Oncology
Juliana Sobral Barros, Talita Ferreira Marques Aguiar, Silvia Souza Costa, Maria Prates Rivas, Monica Cypriano, Silvia Regina Caminada Toledo, Estela Maria Novak, Vicente Odone, Lilian Maria Cristofani, Dirce Maria Carraro, Isabela Werneck da Cunha, Cecilia Maria Lima Costa, Angela M. Vianna-Morgante, Carla Rosenberg, Ana Cristina Victorino Krepischi
Summary: The study provided a comprehensive characterization of chromosomal alterations in hepatoblastoma, identifying specific genomic regions recurrently altered and pointing to potential new biological pathways. The analysis revealed associations between chromosomal abnormalities and tumor aggressiveness, highlighting the importance of further investigating the impact of these alterations on tumor development and progression.
FRONTIERS IN ONCOLOGY
(2021)
Article
Genetics & Heredity
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Summary: Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. The most common genetic locus associated with SHFM1 is located in the 7q21q22 region. A deletion in 7q21 was found in a patient with SHFM1, which included exons 15 and 17 of DYNC1I1 known to act as exonic enhancers of the DLX5/6 genes. This study demonstrates the role of regulatory elements in causing congenital malformations.
Article
Genetics & Heredity
Fethia Chehbani, Pasquale Tomaiuolo, Chiara Picinelli, Marco Baccarin, Paola Castronovo, Maria Luisa Scattoni, Naoufel Gaddour, Antonio M. Persico
Summary: This study used aCGH technology to perform genetic diagnosis on 98 Tunisian children with ASD. The results showed that about 11.2% of the patients had pathogenic or likely pathogenic CNVs, 26.5% had CNVs of uncertain clinical significance, and 37.8% and 24.5% had likely benign or benign CNVs, respectively. Gene set enrichment analysis revealed important Gene Ontology classes related to synapse, neuron differentiation, neurogenesis, and others. No significance was found in transcriptional regulation and immune pathways.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Noriaki Shimokawa, Itsuki Takahashi, Haku Iizuka
Summary: This article summarizes the current state of kyphosis research and introduces the molecular and cellular mechanisms associated with the pathogenesis of this disease, based on findings obtained using rats that develop kyphosis.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2022)
Review
Genetics & Heredity
Juan Luque, Ingrid Mendes, Beatriz Gomez, Beatriz Morte, Miguel Lopez de Heredia, Enrique Herreras, Virginia Corrochano, Juan Bueren, Pia Gallano, Rafael Artuch, Cristina Fillat, Luis A. Perez-Jurado, Lluis Montoliu, Angel Carracedo, Jose M. Millan, Susan M. Webb, Francesc Palau, Pablo Lapunzina
Summary: CIBERER, a thematic area of CIBER, focuses on rare disease research. It aims to facilitate collaboration between biomedical and clinical research groups and provide new tools for the diagnosis and therapy of low-prevalence diseases.
Article
Health Care Sciences & Services
Neboa Zozaya, Teresa Caballero, Teresa Gonzalez-Quevedo, Pedro Gamboa Setien, Ma Angeles Gonzalez, Ramon Jodar, Jose Luis Poveda-Andres, Encarna Guillen-Navarro, Agustin Rivero Cuadrado, Alvaro Hidalgo-Vega
Summary: This study applied a multicriteria decision analysis to assess the value of three long-term prophylactic therapies for hereditary angioedema (HAE) in Spain. The results showed that lanadelumab was assessed as a high-value intervention, better than C1-INH and substantially better than danazol for LTP treatment of HAE.
GLOBAL & REGIONAL HEALTH TECHNOLOGY ASSESSMENT
(2022)
Letter
Pediatrics
Maria Jose Sanchez-Soler, Ana Teresa Serrano-Anton, Vanesa Lopez-Gonzalez, Maria Juliana Ballesta-Martinez, Encarna Guillen-Navarro
ANALES DE PEDIATRIA
(2022)
Article
Genetics & Heredity
Julian Nevado, Sixto Garcia-Minaur, Maria Palomares-Bralo, Elena Vallespin, Encarna Guillen-Navarro, Jordi Rosell, Cristina Bel-Fenellos, Maria Angeles Mori, Montserrat Mila, Miguel del Campo, Pilar Barruz, Fernando Santos-Simarro, Gabriela Obregon, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galan, Juan C. Cigudosa, Angelica Moresco, Cesar Saleme, Silvia Castillo, Elisabeth Gabau, Luis Perez-Jurado, Ana Barcia, Maria Soledad Martin, Elena Mansilla, Isabel Vallcorba, Pedro Garcia-Murillo, Franco Cammarata-Scalisi, Natalya Goncalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Veronica Adriana Seidel, Pilar Tirado, Pablo Lapunzina
Summary: This study describes a cohort of 210 patients with genetically confirmed Phelan-McDermid syndrome (PMS) and identifies multiple variant types, including small deletions and SHANK3 sequence variants. The findings suggest that SHANK3 plays an important role in PMS, but is probably not solely responsible for all the spectrum features.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Raquel Cruz, Silvia Diz-de Almeida, Miguel Lopez de Heredia, Ines Quintela, Francisco C. Ceballos, Guillermo M. Lorenzo-Salazar, Rafaela Gonzalez-Montelongo, Manuela Gago-Dominguez, Marta Sevilla Porras, Jair Antonio Tenorio Castano, Julian Nevado, Jose Maria Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Alvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, Maria J. Arranz, Maria-Jesus Artiga, Raul C. Baptista-Rosas, Maria Barreda-Sanchez, Moncef Belhassen-Garcia, Joao F. Bezerra, Marcos A. C. Bezerra, Lucia Boix-Palop, Maria Brion, Ramon Brugada, Matilde Bustos, Enrique J. Calderon, Cristina Carbonell, Luis Castano, Jose E. Castelao, Rosa Conde-Vicente, M. Lourdes Cordero-Lorenzana, Jose L. Cortes-Sanchez, Marta Corton, M. Teresa Darnaude, Alba De Martino-Rodriguez, Victor del Campo-Perez, Aranzazu Diaz de Bustamante, Elena Dominguez-Garrido, Andre D. Luchessi, Rocio Eiros, Gladys Mercedes Estigarribia Sanabria, Maria Carmen Farinas, Uxia Fernandez-Robelo, Amanda Fernandez-Rodriguez, Tania Fernandez-Villa, Belen Gil-Fournier, Javier Gomez-Arrue, Beatriz Gonzalez Alvarez, Fernan Gonzalez Bernaldo de Quiros, Javier Gonzalez-Penas, Juan F. Gutierrez-Bautista, Maria Jose Herrero, Antonio Herrero-Gonzalez, Maria A. Jimenez-Sousa, Maria Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martin-Lopez, Vicente Martin, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F. Martinez-Resendez, Angel Martinez-Perez, Juliana F. Mazzeu, Eleuterio Merayo Macias, Pablo Minguez, Victor Moreno Cuerda, Vivian N. Silbiger, Silviene F. Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney P. C. Santos, Patricia Perez-Matute, Patricia Perez, M. Elena Perez-Tomas, Teresa Perucho, Mel Lina Pinsach-Abuin, Ericka N. Pompa-Mera, Gloria L. Porras-Hurtado, Aurora Pujol, Soraya Ramiro Leon, Salvador Resino, Marianne R. Fernandes, Emilio Rodriguez-Ruiz, Fernando Rodriguez-Artalejo, Jose A. Rodriguez-Garcia, Francisco Ruiz Cabello, Javier Ruiz-Hornillos, Pablo Ryan, Jose Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yanez, Ruth Zarate, Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, Guillaume Butler-Laporte, Douglas Maya-Miles, Luis Bujanda, Youssef Bouysran, Adriana Palom, David Ellinghaus, Manuel Martinez-Bueno, Selina Rolker, Sara Amitrano, Luisa Roade, Francesca Fava, Christoph D. Spinner, Daniele Prati, David Bernardo, Federico Garcia, Gilles Darcis, Israel Fernandez-Cadenas, Jan Cato Holter, Jesus M. Banales, Robert Frithiof, Stefano Duga, Rosanna Asselta, Alexandre C. Pereira, Manuel Romero-Gomez, Beatriz Nafria-Jimenez, Johannes R. Hov, Isabelle Migeotte, Alessandra Renieri, Anna M. Planas, Kerstin U. Ludwig, Maria Buti, Souad Rahmouni, Marta E. Alarcon-Riquelme, Eva C. Schulte, Andre Franke, Tom H. Karlsen, Luca Valenti, Hugo Zeberg, Brent Richards, Andrea Ganna, Merce Boada, Itziar de Rojas, Agustin Ruiz, Pascual Sanchez-Juan, Luis Miguel Real, Encarna Guillen-Navarro, Carmen Ayuso, Anna Gonzalez-Neira, Jose A. Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Angel Carracedo
Summary: In this study, we identified new candidate genes for COVID-19 severity and provided evidence for genetic disparities among sexes.
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Valerie Cormier-Daire, Moeenaldeen AlSayed, Ines Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sergio B. Sousa, Klaus Mohnike
Summary: The European Achondroplasia Forum emphasizes the importance of early diagnosis and timely referral to a specialized center for the management of achondroplasia. A recent audit conducted by the forum revealed that most diagnoses of achondroplasia in Europe occur prenatally, with variations in the timing of referral to specialist centers. Further research is needed to understand the delay between diagnosis and referral to these centers.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Multidisciplinary Sciences
Rosario Lopez-Rodriguez, Marta del Pozo-Valero, Marta Corton, Pablo Minguez, Javier Ruiz-Hornillos, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Cristina Villaverde, Gonzalo Nunez-Moreno, Raquel Romero, Estela Paz-Artal, Encarna Guillen-Navarro, Berta Almoguera, Carmen Ayuso
Summary: Rare genetic variants in certain genes were found in COVID-19 patients under 65 years who required intubation or resulted in death, potentially influencing the severity of COVID-19 through mechanisms related to immune response and blood coagulation.
SCIENTIFIC REPORTS
(2022)
Article
Geriatrics & Gerontology
Marta Del Pozo-Valero, Marta Corton, Rosario Lopez-Rodriguez, Ignacio Mahillo-Fernandez, Javier Ruiz-Hornillos, Pablo Minguez, Cristina Villaverde, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Estela Paz-Artal, Encarna Guillen-Navarro, Berta Almoguera, Carmen Ayuso
Summary: This study reveals the association between clonal hematopoiesis and mortality in COVID-19 patients, particularly showing a significant correlation between pathogenic/likely pathogenic clonal hematopoiesis and mortality in the 75-84 age group.
Article
Biochemistry & Molecular Biology
Guillermo Amate-Garcia, Maria Juliana Ballesta-Martinez, Pablo Serrano-Lorenzo, Rocio Garrido-Moraga, Adrian Gonzalez-Quintana, Alberto Blazquez, Juan C. Rubio, Ines Garcia-Consuegra, Joaquin Arenas, Cristina Ugalde, Maria Moran, Encarnacion Guillen-Navarro, Miguel A. Martin
Summary: We reported a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis, and isolated complex I deficiency. Through molecular and functional assays, we identified a novel hemizygous variant in the NDUFB11 gene, which is associated with mitochondrial respiratory chain impairment. Our findings emphasize the importance of characterizing the molecular effect of new variants in the patient's tissues to demonstrate their pathogenicity and association with clinical phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Andrology
Rosario Lopez-Rodriguez, Javier Ruiz-Hornillos, Marta Corton, Berta Almoguera, Pablo Minguez, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Lorena Ondo, Andrea Martinez-Ramas, Lidia Fernandez-Caballero, Juan Carlos Taracido-Fernandez, Antonio Herrero-Gonzalez, Ignacio Mahillo, Estela Paz-Artal, Encarna Guillen-Navarro, Carmen Ayuso
Summary: There is no association between the androgen receptor polyQ polymorphism and the severity of COVID-19 in male patients.
Article
Genetics & Heredity
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K. Grange, Mary E. Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke, Encarna Guillen-Navarro, Sigrun Maier-Wohlfart, Athmane Bouroubi, Florence Porte
Summary: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characterized by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious complications. It is caused by pathogenic variants of the ectodysplasin A gene (EDA). Currently, there are no long-term treatment options for XLHED.
Article
Multidisciplinary Sciences
Erola Pairo-Castineira, Konrad Rawlik, Andrew D. Bretherick, Ting Qi, Yang Wu, Isar Nassiri, Glenn A. McConkey, Marie Zechner, Lucija Klaric, Fiona Griffiths, Wilna Oosthuyzen, Athanasios Kousathanas, Anne Richmond, Jonathan Millar, Clark D. Russell, Tomas Malinauskas, Ryan Thwaites, Kirstie Morrice, Sean Keating, David Maslove, Alistair Nichol, Malcolm G. Semple, Julian Knight, Manu Shankar-Hari, Charlotte Summers, Charles Hinds, Peter Horby, Lowell Ling, Danny McAuley, Hugh Montgomery, Peter J. M. Openshaw, Colin Begg, Timothy Walsh, Albert Tenesa, Carlos Flores, Jose A. Riancho, Augusto Rojas-Martinez, Pablo Lapunzina, Jian Yang, Chris P. Ponting, James F. Wilson, Veronique Vitart, Malak Abedalthagafi, Andre D. Luchessi, Esteban J. Parra, Raquel Cruz, Angel Carracedo, Angie Fawkes, Lee Murphy, Kathy Rowan, Alexandre C. Pereira, Andy Law, Benjamin Fairfax, Sara Clohisey Hendry, J. Kenneth Baillie
Summary: This study analyzed genetic data from 24,202 severe COVID-19 cases and identified potentially druggable targets, including inflammatory signaling, monocyte-macrophage activation and endothelial permeability, immunometabolism, and host factors required for viral entry and replication.
Article
Genetics & Heredity
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenaes, Andrea Merker, Antonio Leiva-Gea, Vanesa Lopez Gonzalez, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axel Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renee Shediac, Swati Mukherjee, Klaus Mohnike
Summary: This study investigated the burden of achondroplasia among individuals across a broad range of ages in Europe and found that achondroplasia is associated with multisystem complications, reduced quality of life and functionality, and increased pain. These findings highlight the significant amount of healthcare resources individuals with achondroplasia require throughout their lifespans and provide novel insights into current achondroplasia management practices in Europe.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Pediatrics
Victoria-Eugenia Garcia-Martinez, Ximo Galiana-Valles, Otilia Zomeno-Alcala, Raquel Rodriguez-Lopez, Carmen Llena, Maria del Carmen Martinez-Romero, Encarna Guillen-Navarro
Summary: This article describes an 11-year-old Chinese boy with oligodontia, characterized by conical-shaped teeth as the main phenotype and other mild ectodermal signs. Genetic analysis revealed compound heterozygous pathogenic variants in the WNT10A gene and a homozygous polymorphism in the EDAR gene. The findings suggest that WNT10A mutations are primarily responsible for the dental phenotype, while the EDAR polymorphism may attenuate the severity of other ectodermal signs.
Review
Health Care Sciences & Services
Javier Ruiz-Hornillos, Marta Albert, Diego Real de Asua, Maria Herrera Abian, Inigo de Miguel Beriain, Encarna Guillen-Navarro
Summary: The COVID-19 pandemic presents challenges in clinical, legal, and bioethical aspects, particularly in the prioritization of health resources. The approach should encompass clinical criteria, legal framework, and ethical principles while protecting fundamental rights and human dignity.
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.