Network-assisted target identification for haploinsufficiency and homozygous profiling screens. by Sheng Wang, Jian Peng

“…Here, we present GIT (Genetic Interaction Network-Assisted Target Identification), a network analysis method for drug target identification in haploinsufficiency profiling (HIP) and homozygous profiling (HOP) screens. With the drug-induced phenotypic fitness defect of the deletion of a gene, GIT also incorporates the fitness defects of the gene's neighbors in the genetic interaction network. …”
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Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene by María-Belén Moreno-Risco, Manuel Méndez, María-Isabel Moreno-Carralero, Ana-María López-Moreno, José-Manuel Vagace-Valero, María-José Morán-Jiménez

“…We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.…”
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GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation by Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan

“…DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes. …”
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Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

“…The c.1578del variant, previously not described in literature in a homozygous state, causes Werner syndrome and is associated with the pronounced hallmarks of early senescence in the proband’s fibroblasts. …”
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Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism by Rami Salameh, Mumtaheena Miah, Catherine Anastasopoulou

“…He was found to have homozygous C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation. …”
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Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy by Hilde Fiskvik, Anne F. Jacobsen, Nina Iversen, Carola E. Henriksson, Eva-Marie Jacobsen

“…Our case was a 36-year-old woman, gravida 6, para 0, with antithrombin (AT) deficiency caused by a homozygous mutation in the heparin-binding site (HBS). …”
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Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature by Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

“…Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. …”
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Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa by Māreta Audere, Katrīna Rutka, Svetlana Šepetiene, Baiba Lāce

“…This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.…”
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Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience by Hao-Su Zhan, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Liang Zhang, En-Hui He, Guang-Peng Zhou, Hai-Ming Zhang, Zhi-Jun Zhu, Li-Ying Sun

Subjects: “…Homozygous familial hypercholesterolemia…”
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Prevention of Cardiomyopathy in Transfusion-Dependent Homozygous Thalassaemia Today and the Role of Cardiac Magnetic Resonance Imaging by Athanassios Aessopos, Vasilios Berdoukas, Maria Tsironi

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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants by Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation by Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang, Dong-Yang Kang, Su-Yan Yang, Xin Zhang, Xue Gao, Pu Dai

“…A total of 244 patients with the GJB2 c.235delC homozygous mutation encountered from 2007 to 2015 were enrolled. …”
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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

“…A genetic analysis with a next generation sequencer identified a homozygous W361X mutation in the CASQ2 gene. Careful history taking disclosed that her parents had a consanguineous marriage. …”
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Prevalence of Priapism and Its Awareness amongst Male Homozygous Sickle Cell Patients in Lagos, Nigeria by Adewumi Adediran, Kikelomo Wright, Akinsegun Akinbami, Adedoyin Dosunmu, Olajumoke Oshinaike, Bodunrin Osikomaiya, Sarah Ajibola, Kamal Ismail, Ebele Uche, Olaitan Ojelabi

“…The aim of this study is to determine priapism prevalence and assess the knowledge of male homozygous male patients about it in Lagos, Nigeria. …”
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

“…Abstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. …”
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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy by Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek

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Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature by Qurratulain Rizvi, Uzma Zaidi, Saba Shahid, Shariq Ahmed, Tahir Shamsi

“…We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs∗50) in CALR gene having severe disease manifestations at presentation.…”
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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome by Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo, Xiaoyan Ding

“…Novel compound heterozygous variants c.235T > G (p.T79P) and c.534 + 1G > T were detected in the BBS2 gene in family A, and known homozygous variant c.748G > A (p.G250R) was detected in the MKKS gene in family B. …”
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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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