Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature by Elizabeth S. Sandberg, Ali S. Calikoglu, Karen J. Loechner, Lydia L. Snyder

“…Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. …”
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Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy by Suvorit S. Bhowmick, Radhay Parikh, Pratishtha Shrivastav

“…Individuals carrying this mutation need life-long anti-epileptic therapy for myoclonus. …”
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The use of whole genome amplification for genomic evaluation of bovine embryos by K. S. Pantiukh, I. V. Rukin, S. V. Portnov, A. Khatib, S. L. Panteleev, A. M. Mazur

“…The carrier status of HH0 and HH5 was confirmed by testing the casual mutation using PCR analysis. The carrier status for HCD has not been confirmed by casual mutation analysis. …”
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Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma in the Same Patient as a Collision Tumour by Oguz Dikbas, Aslihan Alpaslan Duman, Gulname Findik Guvendi

“…We do not know the presence of BRAF gene mutation in this case report yet.…”
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Antagonistic functions of CTL1 and SUH1 mediate cell wall assembly in Arabidopsis by Nguyen Thi Thuy, Hyun‐Jung Kim, Suk‐Whan Hong

“…In this study, we identified suppressor of hot2 1 (suh1) as a genetic suppressor of the ctl1hot2‐1 mutation in Arabidopsis. The mutation in SUH1 restored almost all examined ctl1hot2‐1 defects to nearly wild‐type levels or at least partially. …”
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Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis by Sriram Vijayraghavan, Thomas Blouin, James McCollum, Latarsha Porcher, François Virard, Jiri Zavadil, Carol Feghali-Bostwick, Natalie Saini

“…In the genomes of patients with systemic sclerosis, we find evidence of somatic hypermutation or kategis (typically only seen in cancer genomes), we identify mutation signatures closely resembling the error-prone translesion polymerase Polη activity, and observe an activation-induced deaminase-like mutation signature, which overlaps with genomic regions displaying kataegis.…”
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The RNA-binding protein Puf5 and the HMGB protein Ixr1 regulate cell cycle-specific expression of CLB1 and CLB2 in Saccharomyces cerevisiae. by Megumi Sato, Varsha Rana, Yasuyuki Suda, Tomoaki Mizuno, Kenji Irie

“…The decreased expression of CLB1 by the puf5Δ mutation caused a severe growth defect of the puf5Δ clb2Δ double mutant. …”
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

“…The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. …”
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Hemophilia A Haplotypes in Southwestern Iran by Bizhen Keikhaei Dehdezi, Ali Khodadadi, Arta Farhadi Kia, Faezeh Abbasi, Saeed Bitraf, Roya Salehi Kahyesh

“…In 39 patients, the most common bleeding site was in the joints, and only one case had bleeding in the gastrointestinal tract. A high mutation diversity was observed in gene mutations and inversions; the most reported case was intron-22 gene inversion. …”
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Lack of Detection of Xenotropic Murine Leukemia Virus-Related Virus in HIV-1 Lymphoma Patients by Krista A. Delviks-Frankenberry, Chawaree Chaipan, Rachel Bagni, Kathleen Wyvill, Robert Yarchoan, Vinay K. Pathak

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Real-world data of dacomitinib as first-line treatment for patients with EGFR-mutant non-small-cell lung cancer by Ji Eun Shin, Hyun Ae Jung, Sehhoon Park, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Myung-Ju Ahn, Byoung Yong Shim

“…Based on the type of EGFR mutation, the median PFS was 18.1 months (95% CI, 14.5 to NE) in patients with exon 19 deletion, and 15.9 months (95% CI, 12.5 to NE) in patients with L858R mutation. …”
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An exploratory study on the differential diagnostic indicators between adult systemic EBV-positive T-cell lymphoproliferative disorders and angioimmunoblastic T-cell lymphoma with... by Xiaodan Zheng, Yuanyuan Zheng, Yanlin Zhang, Jianlan Xie, Xiaojing Teng, Kuo Bi, Lan Sun, Xiaowen Huang, Mulan Jin, Xiaoge Zhou

“…Results 7 cases of adult EBV+ T-LPD: all cases had no more than 1 T follicular helper (THF) marker was expressed, and there were significantly more EBER+/CD3 + cells than EBER+/CD20 + cells; 5 cases had mutation detection results, in which only 1 had the characteristic KMT2D mutation, 2 had TET2 mutations, and no common mutations such as DDX3X were detected.16 cases of AITL with multiple EBV infections: all cases were found to express at least 2 TFH markers, with 87% of them expressing at least 3 TFH markers., and had significantly more EBER+/CD20 + cells than EBER+/CD3 + cells; 4 cases had mutation test results, with mutated high-frequency genes being TET2 (100%, and all of them had 2 or more TET2 mutations) and RHOA G17V (100%), DNMT3A mutation occurred in 2 cases (50%), and IDH2 R172 mutation occurred in 1 case (25%). …”
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Will the Amaranthus tuberculatus Resistance Mechanism to PPO-Inhibiting Herbicides Evolve in Other Amaranthus Species? by Chance W. Riggins, Patrick J. Tranel

“…Here we investigate inter- and intraspecific variability of the PPX2 gene—specifically exon 9, which includes the mutation site—in ten amaranth species via sequencing and a PCR-RFLP assay. …”
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Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder by Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson

“…A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“…Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes by Heather Choat, Kerri Derrevere, Lisa Knight, Whitney Brown, Elizabeth H. Mack

“…In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. …”
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The Pragmatics of Naming in Samuel Richardson’s Clarissa by Christophe LESUEUR

“…The struggles that purport to assert sway over the name are not only endowed with obvious historical interest in that they allow for a reflection on the perception of processes of mutation of the signifier as important as marriage. …”
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Analysis on Spatio-temporal Change Characteristics of Extreme Precipitation in Hainan Island by ZHANG Shuqi, XIAO Jing

“…The results show that: ① The spatial distribution of extreme precipitation events in Hainan Island is "more in the east and less in the west"; the eastern part has more precipitation and is more prone to rainstorms, and Jianfengling in the western part is also more likely to have short-term heavy rainfall. ② In the past 43 years, the entire island has been tending towards humidification, with short-term precipitation on the 1st and 3rd day increasing in the north and west, and decreasing in the south; consecutive wet days (CWD) increase, consecutive dry days (CDD) decreases, and the trend of rainstorms and heavy rainstorms increases in eastern, northern and western coastal areas. ③ Extreme precipitation indices PRCPTOT, Rx1day, Rx3day, and R99PTOT show an insignificant increase at rates of 45.57, 1.62, 6.08, and 2.80 mm/10a, respectively; among the extreme precipitation day indices, CDD significantly decreases at a rate of 2.07 d/10a, while CWD, R50, and R100 show an insignificant increase at 0.26, 0.22, and 0.02 d/10a, respectively; the extreme precipitation intensity index SDII show an insignificant decrease at 0.18 (mm/d)/10a. ④ In the future, CDD and SDII will continue to increase with strong persistence, and PRCPTOT, Rx1day, Rx3day, R99PTOT, CWD, R50, and R100 will continue to decrease with weak persistence. ⑤ Mutation test shows that mutations in PRCPTOT, Rx1day, Rx3day, R99PTOT, R50, and R100 occurred around 2007, the SDII mutation point appeared in 1988, and the CWD and CDD mutation points appeared around 1995 and 2010, respectively. …”
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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

“…This mutation affected the interaction with cofactor pyridoxal 5′-phosphate since the patient’s hemoglobin improved with oral administration of pyridoxine tablets. …”
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L’enseignement supérieur en Angola face aux inégalités : influences françaises dans les trajectoires politiques by Isabelle de Geuser, Benoît Josset

“…Since 2002, year of the peace accord signature, this system is structuring and on mutation. In 2009, the arrival of a higher education politics became a leitmotif for answering socioeconomic inequality. …”
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