Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…The assays of relative IVD gene mRNA expression, IVD protein expression, and enzymatic activity were used.ResultsWhole-exome sequencing identified a novel homozygous missense variant in the IVD gene (NM_002225.5) c.1006T>C (p.Cys336Arg) within a region of homozygosity of 15q11.2-q21.3. …”
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Association of Xmn I Polymorphism and Hemoglobin E Haplotypes on Postnatal Gamma Globin Gene Expression in Homozygous Hemoglobin E by Supachai Ekwattanakit, Yuwarat Monteerarat, Suchada Riolueang, Kalaya Tachavanich, Vip Viprakasit

“…The majority of individuals had Hb F < 5%; only 10.8% of homozygous Hb E had high Hb F (average 10.5%, range 5.8–14.3%). …”
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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion by Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo, Carlo Ferrarese

“…Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival motor neuron through an epigenetic mechanism. …”
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Wild-type bone marrow cells repopulate tissue resident macrophages and reverse the impacts of homozygous CSF1R mutation. by Dylan Carter-Cusack, Stephen Huang, Sahar Keshvari, Omkar Patkar, Anuj Sehgal, Rachel Allavena, Robert A J Byrne, B Paul Morgan, Stephen J Bush, Kim M Summers, Katharine M Irvine, David A Hume

“…The absence of macrophages in rats with a homozygous mutation in the colony-stimulating factor 1 receptor (Csf1r) gene (Csf1rko) severely compromises pre-weaning somatic growth and maturation of organ function. …”
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Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2 by Yan Long, Chenghan Wang, Jie Xiao, Yunhua Huang, Xiaoting Ling, Chaoyu Huang, Ying Chen, Jiaqi Luo, Rongheng Tang, Faquan Lin, Yifang Huang

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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…His fundus examinations showed salt‐and‐pepper retinal dystrophy, with diffuse extinguished signal on fundus autofluorescence and attenuated amplitude on electroretinogram. A homozygous frameshift variant NM_000329.3:c.1067del (p.Asn356MetfsTer17) in RPE65 was identified by ES with the entire chromosome 1 proving to be paternal UPiD. …”
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Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report by Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan

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Constructing a potential HLA haplo-homozygous induced pluripotent stem cell haplobank using data from an umbilical cord blood bank by Ji He, Yanmin He, Qigang Zhan, Zhipan Wu, Qi Sheng, Wei Zhang, Faming Zhu

“…The analysis showed that 100 distinct HLA-A, -B, and -DRB1 and HLA-A, -B, -C, -DRB1, and -DQB1 homozygous haplotypes would cover 72.74% and 67.87% of Chinese populations, respectively, and 600 HLA-A, -B, -C, -DRB1, and -DQB1 homozygous haplotypes would cover more than 90% of Chinese populations. …”
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Loss of MTAP expression is strongly linked to homozygous 9p21 deletion, unfavorable tumor phenotype, and noninflamed microenvironment in urothelial bladder cancer by Natalia Gorbokon, Niklas Wößner, Viktoria Ahlburg, Henning Plage, Sebastian Hofbauer, Kira Furlano, Sarah Weinberger, Paul Giacomo Bruch, Simon Schallenberg, Florian Roßner, Sefer Elezkurtaj, Maximilian Lennartz, Niclas C Blessin, Andreas H Marx, Henrik Samtleben, Margit Fisch, Michael Rink, Marcin Slojewski, Krystian Kaczmarek, Thorsten Ecke, Tobias Klatte, Stefan Koch, Nico Adamini, Sarah Minner, Ronald Simon, Guido Sauter, Henrik Zecha, David Horst, Thorsten Schlomm, Lukas Bubendorf, Martina Kluth

“…Abstract Homozygous 9p21 deletions usually result in a complete loss of S‐methyl‐5′‐thioadenosine phosphorylase (MTAP) expression visualizable by immunohistochemistry (IHC). …”
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Influence of the Clinical Status on Stress Reticulocytes, CD 36 and CD 49d of SSFA2 Homozygous Sickle Cell Patients Followed in Abidjan by Duni Sawadogo, Aïssata Tolo-Dilkébié, Mahawa Sangaré, Nelly Aguéhoundé, Hermance Kassi, Toussaint Latte

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Modern issues of sugar beet (<i>Beta vulgaris</i> L.) hybrid breeding by S. D. Karakotov, I. V. Apasov, A. A. Nalbandyan, E. N. Vasilchenko, T. P. Fedulova

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A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants by Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya

“…The diagnosis of adult-onset VWML with movement disability was substantiated by genetic testing, which named a homozygous pathogenic missense variant, EIF2B3, and a deletion in PRKN/PARK2. …”
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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report) by Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

“…We report a novel loss-of-function homozygous variant in TTI2 that leads to syndromic intellectual disability and primary microcephaly.…”
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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

“…Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. …”
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HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype by Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec

“…In this study we investigated influence of Hp2-2 and of potential confounders on the iron indices of 351 p.C282Y homozygous patients. We conclude that there is a cause-and-effect relationship between the Hp2-2 genotype and increased iron indices in p.C282Y homozygous patients. …”
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Treatment and Genotypic Characteristics of Patients with Rheumatoid Arthritis by Norbutoev Olimjon, Akhmedov Khalmurad, Abdurakhmanova Nargiza, Turaev Ikhtiyor

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Frequency and Prognostic Impact of CDKN2A/B Alteration in Oligodendrogliomas: Systematic Review and Meta-analysis by Satoshi NAKASU, Shoichi DEGUCHI, Yoko NAKASU

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Study of the relationships of polymorphisms of the folate cycle genes with the levels of homocysteine and folic acid as risk factors of cardiovascular disorders in the post-covid p... by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, K.P. Komisarenko

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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. …”
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Allelic diversity of the <i>FaOMT</i> gene (mesifurane biosynthesis) in promising strawberry cultivars and selected forms developed at the I.V. Michurin Federal Science Center by A. S. Lyzhin, I. V. Luk’yanchuk

“…The FaOMT fruit aroma gene is represented in the studied strawberry varieties and forms by three combinations of alleles: the homozygous state of the functional allele, the heterozygous combination of the alleles, and the homozygous state of the nonfunctional allele. …”
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