Full Text Journal Articles by
Author Kejian Zhang

Advertisement

Find full text journal articles






Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T Booth, Karen B Avraham, Hannie Kremer, Andrew J Griffith, Heidi L Rehm, Sami S Amr, Ahmad N Abou Tayoun, ,

<h4>Purpose</h4>The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation.<h4>Methods</h4>A total of 157 variants across ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Treatment of Chylothorax complicating pulmonary resection with hypertonic glucose Pleurodesis.

Kejian Zhang, Changyuan Li, Mingrui Zhang, Yang Li,

<h4>Background</h4>To retrospectively assess the efficacy of hypertonic glucose pleurodesis for treatment of chylothorax after pulmonary resection.<h4>Methods</h4>Out of a total of 8252 patients who underwent pulmonary resection (at least lobectomy) at department of thoracic surgery, between June 2008 and December 2015, 58 patients (0.7%) developed postoperative chylothorax. All patients received conservative ... Read more >>

J Cardiothorac Surg (Journal of cardiothoracic surgery)
[2021, 16(1):149]

Cited: 0 times

View full text PDF listing >>



Advertisement

Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.

Duc-Hung Pham, Ramesh Kudira, Lingfen Xu, C Alexander Valencia, Jillian L Ellis, Tiffany Shi, Kimberley J Evason, Immaculeta Osuji, Nelson Matuschek, Liva Pfuhler, Mary Mullen, Sujit K Mohanty, Ammar Husami, Laura N Bull, Kejian Zhang, Sami Wali, Chunyue Yin, Alexander Miethke,

<h4>Background & aims</h4>The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models.<h4>Method</h4>Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed ... Read more >>

Gastroenterology (Gastroenterology)
[2021, 161(1):287-300.e16]

Cited: 0 times

View full text PDF listing >>



Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Vanessa Gadoury-Levesque, Lei Dong, Rui Su, Jianjun Chen, Kejian Zhang, Kimberly A Risma, Rebecca A Marsh, Miao Sun,

This article explores the distribution and mutation spectrum of potential disease-causing genetic variants in hemophagocytic lymphohistiocytosis (HLH)-associated genes observed in a large tertiary clinical referral laboratory. Samples from 1892 patients submitted for HLH genetic analysis were studied between September 2013 and June 2018 using a targeted next-generation sequencing panel approach. ... Read more >>

Blood Adv (Blood advances)
[2020, 4(12):2578-2594]

Cited: 2 times

View full text PDF listing >>



LINC00210 plays oncogenic roles in non-small cell lung cancer by sponging microRNA-328-5p.

Zhengjia Liu, Lei Xu, Kejian Zhang, Bo Guo, Zhi Cui, Nan Gao,

Long noncoding RNA (lncRNA) has an important role in regulating non-small cell lung cancer (NSCLC) progression. The present study aimed to investigate the effect of LINC00210 in NSCLC progression in order to provide a novel treatment target for patients with NSCLC. A total of 39 NSCLC patients were obtained and ... Read more >>

Exp Ther Med (Experimental and therapeutic medicine)
[2020, 19(5):3325-3331]

Cited: 0 times

View full text PDF listing >>



PAX1 is essential for development and function of the human thymus.

Yasuhiro Yamazaki, Raul Urrutia, Luis M Franco, Silvia Giliani, Kejian Zhang, Anas M Alazami, A Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C Alexander Valencia, Alexandra H Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander K Al-Saud, Hamoud Al-Mousa, Jean Laurent Casanova, Roshini S Abraham, Luigi D Notarangelo,

We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. We identified rare biallelic <i>PAX1</i> rare variants in all patients. ... Read more >>

Sci Immunol (Science immunology)
[2020, 5(44):]

Cited: 11 times

View full text PDF listing >>



Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Jennifer A Rothman, Loan Hsieh, Stella T Chou, Janet L Kwiatkowski, Eugene Khandros, Matthew F Gorman, Donald T Wells, Tamara Maghathe, Neha Dagaonkar, Katie G Seu, Kejian Zhang, Wenying Zhang, Theodosia A Kalfa,

[This corrects the article DOI: 10.3389/fphys.2019.00815.]. ... Read more >>

Front Physiol (Frontiers in physiology)
[2019, 10:1331]

Cited: 0 times

View full text PDF listing >>



Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Nancy D Leslie, C Alexander Valencia, Arnold W Strauss, Kejian Zhang,

<h4>Clinical characteristics</h4>Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial β-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen B Avraham, Xinhua Hu, Gema Garrido, Miguel A Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E Hemphill, Andrew R Grant, Rebecca K Siegert, Marina T DiStefano, Sami S Amr, Heidi L Rehm, Ahmad N Abou Tayoun, ,

<h4>Purpose</h4>Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants.<h4>Methods</h4>The ClinGen Hearing Loss Expert Panel collected published data and shared unpublished information ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(11):2442-2452]

Cited: 10 times

View full text PDF listing >>



The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Jennifer A Rothman, Loan Hsieh, Stella T Chou, Janet L Kwiatkowski, Eugene Khandros, Matthew F Gorman, Donald T Wells, Tamara Maghathe, Neha Dagaonkar, Katie G Seu, Kejian Zhang, Wenying Zhang, Theodosia A Kalfa,

Hereditary spherocytosis (HS) is the most common red blood cell (RBC) membrane disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding for ankyrin (<i>ANK1</i>), band 3 (<i>SLC4A1</i>), protein 4.2 (<i>EPB42</i>), and α (<i>SPTA1</i>) or β-spectrin (<i>SPTB</i>). Severe recessive HS is most commonly due to biallelic ... Read more >>

Front Physiol (Frontiers in physiology)
[2019, 10:815]

Cited: 4 times

View full text PDF listing >>



Atypical Chronic Myeloid Leukemia in a Patient with Aplastic Anemia.

Michelina Santopietro, Maurizio Miano, Giovanna Palumbo, Kejian Zhang, Luisa Cardarelli, Sabina Chiaretti, Nadia Peragine, Mauro Nanni, Daniela Diverio, Francesca Mancini, Anna Maria Testi, Maria Luisa Moleti, Robin Foà, Fiorina Giona,

Acta Haematol (Acta haematologica)
[2019, 142(3):185-186]

Cited: 0 times

View full text PDF listing >>



Variations in early gut microbiome are associated with childhood eczema.

Yu Zhang, Shujuan Jin, Jingjing Wang, Lanying Zhang, Yu Mu, Kefei Huang, Bo Zhao, Kejian Zhang, Yutao Cui, Sabrina Li,

We assessed the relationship between gut microbiome profile and childhood eczema in 172 subjects (age < 3 years, healthy group N = 123, eczema group N = 49) utilizing 16S rRNA gene sequencing. Lower relative abundance of Bifidobacterium was shown to be associated with childhood eczema. Considering that developmental and environmental factors could modify the state ... Read more >>

FEMS Microbiol Lett (FEMS microbiology letters)
[2019, 366(9):]

Cited: 4 times

View full text PDF listing >>



Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen Avraham, Xinhua Hu, Gema Garrido, Miguel Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah Hemphill, Andrew Grant, Rebecca Siegert, Marina DiStefano, Sami Amr, Heidi Rehm, Ahmad Abou Tayoun, ,

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants. <h4>METHODS</h4> The ClinGen Hearing Loss Expert Panel (HL-EP) collected published ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.

Laura B Ramsey, Cynthia A Prows, Kejian Zhang, Shannon N Saldaña, Michael T Sorter, John P Pestian, Richard J Wenstrup, Alexander A Vinks, Tracy A Glauser,

Clin Pharmacol Ther (Clinical pharmacology and therapeutics)
[2019, 105(1):49-52]

Cited: 18 times

View full text PDF listing >>



Novel phenotype-disease matching tool for rare genetic diseases.

Jing Chen, Huan Xu, Anil Jegga, Kejian Zhang, Pete S White, Ge Zhang,

<h4>Purpose</h4>To improve the accuracy of matching rare genetic diseases based on patient's phenotypes.<h4>Methods</h4>We introduce new methods to prioritize diagnosis of genetic diseases based on integrated semantic similarity (method 1) and ontological overlap (method 2) between the phenotypes expressed by a patient and phenotypes annotated to known diseases.<h4>Results</h4>We evaluated the performance ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(2):339-346]

Cited: 1 time

View full text PDF listing >>



Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, Vahid Asnafi, Philip Roehrs, Shaoying Chen, James W Verbsky, Katherine R Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleaseman, Amy P Hsu, Steven M Holland, Rebecca Marsh, Alain Fischer, Thomas A Fleisher, Capucine Picard, Sylvain Latour, Sergio D Rosenzweig,

Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2018, 128(7):3071-3087]

Cited: 30 times

View full text PDF listing >>



Screening for Wiskott-Aldrich syndrome by flow cytometry.

Samuel C C Chiang, Sue M Vergamini, Ammar Husami, Lisa Neumeier, Kathryn Quinn, Teresa Ellerhorst, Linda Sheppard, Carrie Gifford, David Buchbinder, Avni Joshi, Marianne Ifversen, Gary I Kleiner, James B Bussel, Shanmuganathan Chandrakasan, Robert D Pesek, Tamara C Pozos, Melissa J Rose, Amy M Scurlock, Kejian Zhang, Yenan T Bryceson, Jack Bleesing, Rebecca A Marsh,

J Allergy Clin Immunol (The Journal of allergy and clinical immunology)
[2018, 142(1):333-335.e8]

Cited: 2 times

View full text PDF listing >>



Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.

Grant S Schulert, Mingce Zhang, Ammar Husami, Ndate Fall, Hermine Brunner, Kejian Zhang, Randy Q Cron, Alexei A Grom,

OBJECTIVE:Macrophage activation syndrome (MAS) is a life-threatening complication of systemic juvenile idiopathic arthritis (JIA) and has pathologic similarity to hemophagocytic lymphohistiocytosis (HLH). Intronic variants in UNC13D are found in patients with familial HLH type 3 (FHLH3), but the role of noncoding variants in MAS is unknown. The objective of this ... Read more >>

Arthritis Rheumatol (Arthritis & rheumatology (Hoboken, N.J.))
[2018, 70(6):963-970]

Cited: 8 times

View full text PDF listing >>



Psychometric evaluation of the Chinese version of the Child Health Utility 9D (CHU9D-CHN): a school-based study in China.

Peirong Yang, Gang Chen, Peng Wang, Kejian Zhang, Feng Deng, Haifeng Yang, Guihua Zhuang,

<h4>Purpose</h4>The Child Health Utility 9D (CHU9D), a new generic preference-based health-related quality of life (HRQoL) instrument, was developed specifically for the application in cost-effectiveness analyses of treatments and interventions for children and adolescents. The main objective of this study was to examine the psychometric property of the Chinese version of ... Read more >>

Qual Life Res (Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation)
[2018, 27(7):1921-1931]

Cited: 2 times

View full text PDF listing >>



Down-regulation of miR-214 inhibits proliferation and glycolysis in non-small-cell lung cancer cells via down-regulating the expression of hexokinase 2 and pyruvate kinase isozyme M2.

Kejian Zhang, Mingrui Zhang, Hui Jiang, Fenglin Liu, Hongwei Liu, Yang Li,

Glycolysis is a metabolic pathway that is enhanced in cancer cells. miR-214 plays an important role in cancer development and can modulate glycolysis. However, whether miR-214 can regulate glycolysis in non-small-cell lung cancer (NSCLC) cells has not yet been investigated. The expression levels of miR-214 in 7 NSCLC cell lines ... Read more >>

Biomed Pharmacother (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie)
[2018, 105:545-552]

Cited: 17 times

View full text PDF listing >>



Congenital dyserythropoietic anaemia type I diagnosed in a young adult with a history of splenectomy in childhood for presumed haemolytic anaemia.

Satheesh Chonat, Morgan L McLemore, Silvia T Bunting, Shannon Nortman, Kejian Zhang, Theodosia A Kalfa,

Br J Haematol (British journal of haematology)
[2018, 182(1):10]

Cited: 1 time

View full text PDF listing >>



Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio,

Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical ... Read more >>

Int J Hematol (International journal of hematology)
[2018, 108(3):319-328]

Cited: 2 times

View full text PDF listing >>



Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.

Mariana Gutiérrez, Paula Scaglia, Ana Keselman, Lucía Martucci, Liliana Karabatas, Sabina Domené, Ayelen Martin, Patricia Pennisi, Miguel Blanco, Nora Sanguineti, Liliana Bezrodnik, Daniela Di Giovanni, María Soledad Caldirola, María Esnaola Azcoiti, María Isabel Gaillard, Lee A Denson, Kejian Zhang, Ammar Husami, Nana-Hawa Yayah Jones, Vivian Hwa, Santiago Revale, Martín Vázquez, Héctor Jasper, Ashish Kumar, Horacio Domené,

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. By using whole-exome sequencing, we identified two novel STAT3 mutations, p.E616del and p.C426R, in two unrelated pediatric patients with IGF-I deficiency and immune dysregulation. The functional analyses showed ... Read more >>

Mol Cell Endocrinol (Molecular and cellular endocrinology)
[2018, 473:166-177]

Cited: 8 times

View full text PDF listing >>



Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G Seu, Matthew M Heeney, Kejian Zhang, Robert J Hopkin, Theodosia A Kalfa,

Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing PKD and hemolytic ... Read more >>

Hum Mutat (Human mutation)
[2018, 39(3):389-393]

Cited: 2 times

View full text PDF listing >>



Hereditary xerocytosis: Diagnostic considerations.

Mary Risinger, Edyta Glogowska, Satheesh Chonat, Kejian Zhang, Neha Dagaonkar, Clinton H Joiner, Charles T Quinn, Theodosia A Kalfa, Patrick G Gallagher,

Am J Hematol (American journal of hematology)
[2018, 93(3):E67-E69]

Cited: 3 times

View full text PDF listing >>



Advertisement

Disclaimer
1.2362 s