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JOURNAL ARTICLE
Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping Gao
BACKGROUND: The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the brothers with whole-exome sequencing. METHODS: The clinical data of the patients and their mother were collected, and genomic DNA was extracted from peripheral blood samples. By Whole-exome sequencing filtered for a minor allele frequency (MAF) ≤0...
January 27, 2024: BMC Oral Health
#22
JOURNAL ARTICLE
Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell
Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene albinism panel, the genetic background of 11 of the 17 Hungarian patients was elucidated. In patients with unidentified genetic backgrounds ( n = 6), whole exome sequencing was performed...
January 20, 2024: International Journal of Molecular Sciences
#23
JOURNAL ARTICLE
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobran
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific antibody production, and recurrent infections. The genetics of CVID is complex, and monogenic defects account for only a portion of cases, typically <30%. Other proposed mechanisms include digenic, oligogenic, or polygenic inheritance and epigenetic dysregulation. In this study, we aimed to assess the role of skewed X-chromosome inactivation (XCI) in CVID...
January 24, 2024: Journal of Clinical Immunology
#24
JOURNAL ARTICLE
Xiangui Li, Jiabao Zhu, Fanzhen Lv, Wenqi Ma, Weimin Zhou, Wenwen Zhang
Venous thromboembolism (VTE) represents a worldwide health challenge, impacting millions of people each year. The genesis of venous thrombosis is influenced in part by genetic components. Hereditary thrombosis is described as a genetically determined susceptibility to VTE. In the present study, a male patient was referred to our department presenting with multiple venous thrombosis events in different locations. Given a lack of identifiable risk factors, we aimed to investigate the possible genetic factor underlying venous thrombosis...
January 15, 2024: Hämostaseologie
#25
JOURNAL ARTICLE
Metagenomic analysis of the ocular toxoplasmosis in children uveitis from Fayoum governorate, Egypt.
Marwa A Elmallawany, Amany A Ldelkl, Khaled G Lu Eleinen, Ahmed H Nadar, Azza I El-Adawy, Marwa A El-Dardiry, Yosra N Ldel-Hafez, Ahmed A Kotb, Ahmed T S Saif, Hoda A A Shaheen, Ahmed Sayed, Omar Samir, Adham A Alatyar, Mostafa A Sheble, Mostafa Elnakib, Mohamed S Badr, Reham K Nahnoush
Granulomatous anterior uveitis with single or numerous gelatinous nodules was found in children living in rural Egypt. All ocular diseases were originally thought to be water-born and related to digenic flukes. The current study sought to learn more about the causes of anterior granulomatous uveitis in Egyptian youngsters who used to swim in rural water canals. 50 children with eye lesions that had not responded to medical treatment were recruited. Four samples were surgically extracted and examined using real-time PCR, transmission electron microscopy (TEM), and shotgun metagenomic sequencing (SMS)...
January 10, 2024: Infection, Genetics and Evolution
#26
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl, Kate Burley, Li F Chan, Patrick Chinnery, Peter Conlon, Marcos Costa, Alice E Davidson, Sally J Dawson, Elhussein Elhassan, Sarah E Flanagan, Marta Futema, Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin, Sophie Hambleton, Amy R Hicks, Henry Houlden, Richard S Houlston, Sarah A Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Liskova, Hannah Mitchison, Heba Morsy, Andrew D Mumford, William G Newman, Ruxandra Neatu, Edel A O'Toole, Albert Cm Ong, Alistair T Pagnamenta, Shamima Rahman, Neil Rajan, Peter N Robinson, Mina Ryten, Omid Sadeghi-Alavijeh, John A Sayer, Claire L Shovlin, Jenny C Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M van Eerde, James S Ware, Laura M Watts, Andrew R Webster, Sarah K Westbury, Sean L Zheng, Mark Caulfield, Damian Smedley
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more...
December 21, 2023: medRxiv
#27
Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto
INTRODUCTION: Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of cases of digenic AS has increased, but the genotype-phenotype correlation of patient with digenic AS is still unclear. Here, we present a case of digenic AS with novel digenic missense variants in COL4A4 (c.827G>C, p.Gly276Ala) and COL4A5 (c...
2024: Case Reports in Nephrology and Dialysis
#28
JOURNAL ARTICLE
Tian Wang, Wu Ren, Fangfang Fu, Hairong Wang, Yan Li, Jie Duan
OBJECTIVES: CHARGE syndrome is a congenital hereditary condition involving multiple systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism (IHH) due to the overlap of clinical manifestations. An accurate clinical diagnosis remains challenging when the predominant clinical manifestation resembles hypogonadotropic hypogonadism. METHODS: This original research is conducted based on the genetic finding and analysis of clinical cases...
January 15, 2024: Heliyon
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REVIEW
Felipe Rodrigues de Oliveira, Mara Sanches Guaragna, Andréa Trevas Maciel-Guerra, Beatriz Amstalden Barros, Maricilda Palandi de Mello, Gil Guerra-Junior, Helena Fabbri-Scallet
BACKGROUND: DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reported in two different phenotypes: neurodevelopmental disorders and disorders/differences of sex development (DSD). Particularly for the DSD group, variants were mainly reported associated with gonadal dysgenesis and testicular regression syndrome. SUMMARY: Focusing specific in the DSD group, we revised the 21 DHX37 variants described across a total of 55 cases published in the literature so far...
December 23, 2023: Hormone Research in Pædiatrics
#30
Helena F Pernice, Luke F O'Donnell, Alexander M Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
AIM: X-linked variants in FLNA are associated with the Ehlers-Danlos-Syndrome (EDS)-variant form of periventricular heterotopia, and autosomal dominant variants in UCHL1 are associated with a late-onset spastic ataxia, peripheral neuropathy, and optic atrophy. Here we present a rare case involving both a novel heterozygous whole gene deletion of UCHL1 and a heterozygous frameshift variant in the FLNA gene resulting in a complex phenotype. METHODS: A 67-year-old female with a confirmed pathogenic variant in the FLNA gene, resulting in an enlarged aorta and joint pains, presented with a 4-year history of severe sensory ataxia, upper motor neuron signs, eye movement abnormalities, and severe sensory loss...
December 22, 2023: Journal of the Peripheral Nervous System: JPNS
#31
JOURNAL ARTICLE
Eid A Al-Mutairy, Somaya Al Qattan, Mohammed Khalid, Azizah A Al-Enazi, Maher M Al-Saif, Faiqa Imtiaz, Khushnooda Ramzan, Vineesh Raveendran, Ayodele Alaiya, Brian F Meyer, Sergei P Atamas, Kate S Collison, Khalid S Khabar, Jeffrey D Hasday, Futwan Al-Mohanna
Patients with digenic S100A3 and S100A13 mutations exhibited an atypical and progressive interstitial pulmonary fibrosis, with impaired intracellular calcium homeostasis and mitochondrial dysfunction. Here we provide direct evidence of a causative effect of the mutation on receptor mediated calcium signaling and calcium store responses in control cells transfected with mutant S100A3 and mutant S100A13. We demonstrate that the mutations lead to increased mitochondrial mass and hyperpolarization, both of which were reversed by transfecting patient-derived cells with the wild type S100A3 and S100A13, or extracellular treatment with the recombinant proteins...
2023: Frontiers in Cell and Developmental Biology
#32
REVIEW
Klara Horackova, Marketa Janatova, Petra Kleiblova, Zdenek Kleibl, Jana Soukupova
Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult OC diagnosed ≤30 years is rare, accounting for less than 5% of all OC cases. The most significant risk factor for OC development are germline pathogenic/likely pathogenic variants (GPVs) in OC predisposition genes (including BRCA1 , BRCA2 , BRIP1 , RAD51C , RAD51D , Lynch syndrome genes, or BRIP1 ), which contribute to the development of over 20% of all OC cases...
November 30, 2023: International Journal of Molecular Sciences
#33
JOURNAL ARTICLE
James M Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Jihoon E Joo, Romy Walker, Julia Como, Susan Preston, Shuyi Marci Chai, Yen Lin Chu, Aaron L Meyers, Bernard J Pope, David Duggan, J Lynn Fink, Finlay A Macrae, Christophe Rosty, Ingrid M Winship, Mark A Jenkins, Daniel D Buchanan
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Cancer Type X (FCCTX), remains poorly understood. We describe a multi-generation CRC-affected family segregating pathogenic variants in both BRCA1, a gene associated with breast and ovarian cancer and RNF43, a gene associated with Serrated Polyposis Syndrome (SPS). A single family out of 105 families meeting the criteria for FCCTX (Amsterdam I family history criteria with mismatch repair (MMR)-proficient CRCs) recruited to the Australasian Colorectal Cancer Family Registry (ACCFR; 1998-2008) that underwent whole exome sequencing (WES), was selected for further testing...
December 8, 2023: Familial Cancer
#34
JOURNAL ARTICLE
Kálmán Tory
The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms "dominant" and "recessive" characters and determined their 3:1 ratio in the offspring of heterozygous "hybrid" plants. This distribution allowed calculation of the number of the phenotype-determining "elements," i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice...
December 5, 2023: Pediatric Nephrology
#35
JOURNAL ARTICLE
Chujun Wu, Zaiqiang Zhang
BACKGROUND: Cases of RNF216 -related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS: Twenty-four individuals from 17 families with causative RNF216 variants were identified...
November 27, 2023: Journal of Medical Genetics
#36
JOURNAL ARTICLE
Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Lawrence W Stanton, Puthen Veettil Jithesh, Lawrence C Layman, Hyung-Goo Kim
This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate autism genes in independent simplex families, including both four known and two novel autosomal dominant and autosomal recessive genes associated with ASD. The variants consisted primarily of de novo and homozygous missense and splice variants. Multiple individuals displayed more than one candidate variant, suggesting the potential involvement of digenic or oligogenic models...
2023: Frontiers in Psychiatry
#37
JOURNAL ARTICLE
Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor Fernández-de la Hoz, Lidia González-Quereda, Alba Segarra-Casas, Velina Nedkova, Pia Gallano, Paloma Martín-Jiménez, Aurelio Hernández-Laín, Montse Olivé, Ana Arteche-López, Cristina Domínguez-González
Welander distal myopathy typically manifests in late adulthood and is caused by the founder TIA1 c.1150G>A (p.Glu384Lys) variant in families of Swedish and Finnish descent. Recently, a similar phenotype has been attributed to the digenic inheritance of TIA1 c.1070A>G (p.Asn357Ser) and SQSTM1 c.1175C>T (p.Pro392Leu) variants. We describe two unrelated Spanish patients presenting with slowly progressive gait disturbance, distal-predominant weakness, and mildly elevated creatine kinase (CK) levels since their 6th decade...
December 2023: Neuromuscular Disorders: NMD
#38
JOURNAL ARTICLE
Kavitha Ravi, Tanvi Kaur, Anisa S Khan, Benjamin Pope, Kim Y Nguyen, Kiranmayee Muralidhar, Karl Krupp, Brenda Y Hernandez, Sy Angela, Purnima Madhivanan, Vivek R Nerurkar
Smokeless tobacco (SLT) is consumed by more than 300 million people worldwide. Studies show high use among Indian indigenous women who are also at high risk for oral cancers. Both human papillomavirus infection (HPV) and SLT have been associated with oral cancer, this study examined the presence of high-risk HPV in oral samples collected from tribal smokeless tobacco users in Mysuru, India. Between June and August 2019, 100 tribal females (50 SLT-users and 50 non-users) from rural Mysuru District, Karnataka, were enrolled in a cross-sectional study...
2023: Indian Journal of Community Medicine
#39
REVIEW
Pavlos Fanis, Vassos Neocleous, Irene Papapetrou, Leonidas A Phylactou, Nicos Skordis
Human sexual and reproductive development is regulated by the hypothalamic-pituitary-gonadal (HPG) axis, which is primarily controlled by the gonadotropin-releasing hormone (GnRH) acting on its receptor (GnRHR). Dysregulation of the axis leads to conditions such as congenital hypogonadotropic hypogonadism (CHH) and delayed puberty. The pathophysiology of GnRHR makes it a potential target for treatments in several reproductive diseases and in congenital adrenal hyperplasia. GnRHR belongs to the G protein-coupled receptor family and its GnRH ligand, when bound, activates several complex and tissue-specific signaling pathways...
November 4, 2023: International Journal of Molecular Sciences
#40
JOURNAL ARTICLE
Yi Yang, Man Qin, Yuming Zhao, Xin Wang
Amelogenesis imperfecta (AI) represents a group of clinically and genetically heterogeneous disorders that affect enamel formation and mineralization. Although AI is commonly considered a monogenic disorder, digenic inheritance is rarely reported. In this study, we recruited two nonconsanguineous Chinese families exhibiting diverse phenotypes of enamel defects among affected family members. Digenic variants were discovered in both probands. In family 1, the proband inherited a paternal frameshift variant in LAMA3 (NM_198129...
November 8, 2023: Clinical Genetics
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