Article
Urology & Nephrology
Kathrin Burgmaier, Leonie Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Baerbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomas Seeman, Lale Sever, Przemyslaw Sikora, Maria Szczepanska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz Thorsten Weber, Elke Wuehl, Klaus Zerres, Joerg Doetsch, Franz Schaefer, Max Christoph Liebau
Summary: ARPKD is a severe disease characterized by fibrocystic changes in kidneys and liver, caused by variants in the PKHD1 gene. A study identified new genotype-phenotype correlations, showing that different regions of the gene affect disease severity and outcomes, potentially guiding personalized treatment approaches.
KIDNEY INTERNATIONAL
(2021)
Review
Obstetrics & Gynecology
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu
Summary: This case demonstrates the importance of imaging examinations in the diagnosis and evaluation of CD concomitant with ARPKD.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Review
Biochemistry & Molecular Biology
Adrian Cordido, Marta Vizoso-Gonzalez, Miguel A. Garcia-Gonzalez
Summary: ARPKD is a rare disorder linked to the PKHD1 and DZIP1L genes, with research elucidating molecular pathways involved in disease progression. However, understanding of the function of ARPKD proteins and the disease's molecular mechanism remains incomplete.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Paraskevi Goggolidou, Taylor Richards
Summary: ARPKD is a genetic kidney disease characterized by bilateral enlargement of cystic kidneys and liver fibrosis. The severity varies, with a high mortality rate in the early stage but good prognosis if surviving the first year. PKHD1 and DZIP1L are the two known genes causing ARPKD, and there may be other genetic modifiers and phenocopies influencing diagnosis.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Urology & Nephrology
Laura R. Claus, Chuan Chen, Jennifer Stallworth, Joshua L. Turner, Gisela G. Slaats, Alexandra L. Hawks, Holly Mabillard, Sarah R. Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J. Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Eric Olinger, Martin Larsen, Jens Michael Hertz, Marc R. Lilien, Lena Obeidova, Tomas Seeman, Hillarey K. Stone, Larissa Kerecuk, Mihai Gurgu, Fjodor A. Yousef Yengej, Carola M. E. Ammerlaan, Maarten B. Rookmaaker, Christian Hanna, R. Curtis Rogers, Karen Duran, Edith Peters, John A. Sayer, Gijs van Haaften, Peter C. Harris, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet
Summary: This study identifies NEK8 as a disease gene for autosomal dominant polycystic kidney disease (ADPKD) and suggests that specific heterozygous missense variants in the NEK8 kinase domain have a dominant-negative effect on the disease.
KIDNEY INTERNATIONAL
(2023)
Review
Biochemistry & Molecular Biology
L. Lucchetti, M. Chinali, F. Emma, L. Massella
Summary: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the most common cystic kidney diseases, with significant differences in genetics and clinical manifestations. Hypertension is a main symptom in both diseases, but the age of onset and secondary cardiovascular complications differ. Systematic screening and monitoring of hypertension and secondary cardiovascular damage in childhood can help manage the disease early and limit the burden in adulthood.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Urology & Nephrology
Wei Wang, Luciane M. Silva, Henry H. Wang, Matthew A. Kavanaugh, Tana S. Pottorf, Bailey A. Allard, Damon T. Jacobs, Rouchen Dong, Joseph T. Cornelius, Aakriti Chaturvedi, Katherine I. Swenson-Fields, Timothy A. Fields, Michele T. Pritchard, Madhulika Sharma, Chad Slawson, Darren P. Wallace, James P. Calvet, Pamela V. Tran
Summary: The study investigated the role of global deletion of the IFT-A gene Ttc21b in ADPKD mouse models. Results showed that deleting Ttc21b in juvenile ADPKD mice partially ameliorated cystogenesis, while in adult ADPKD mice, it significantly attenuated kidney cysts.
KIDNEY INTERNATIONAL
(2022)
Review
Pediatrics
Eric G. Benz, Erum A. Hartung
Summary: ADPKD and ARPKD are characterized by bilateral cystic kidney disease with distinct liver manifestations. The clinical presentation and severity of both diseases are wider than previously recognized, and pediatric and adult nephrologists may care for individuals with these diseases in their lifetimes. Genetic, clinical, and imaging predictors can help forecast disease progression, and pharmacologic therapies are available to prevent progression.
PEDIATRIC NEPHROLOGY
(2021)
Review
Pediatrics
Max Christoph Liebau
Summary: ARPKD, a rare disorder in pediatric nephrology, is mainly caused by variants in the PKHD1 gene and presents major clinical variability. Symptoms frequently appear perinatally, posing challenges in management. This review focuses on early manifestations and clinical management, particularly on kidney disease.
PEDIATRIC NEPHROLOGY
(2021)
Article
Medicine, General & Internal
Huixia Li, Chunli Wang, Ruochen Che, Bixia Zheng, Wei Zhou, Songming Huang, Zhanjun Jia, Aihua Zhang, Fei Zhao, Guixia Ding
Summary: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by enlarged kidneys and collecting duct dilatation. There is currently no efficient treatment for ARPKD. We designed antisense oligonucleotides (ASOs) to correct splicing defects and investigated their potential as a treatment option for ARPKD.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Surgery
Wei Kelly Wu, Ioannis A. Ziogas, Manhal Izzy, Anita K. Pai, Einar T. Hafberg, Lea K. Matsuoka, Sophoclis P. Alexopoulos
Summary: Congenital hepatic fibrosis (CHF) is a hereditary disease that may require liver and kidney transplantation. Patients undergoing liver transplantation for CHF have good short-term and long-term survival rates, with no significant differences in outcomes between simultaneous liver-kidney and isolated liver transplantation. Half of patients with CHF also require kidney transplantation.
TRANSPLANT INTERNATIONAL
(2021)
Article
Gastroenterology & Hepatology
Murali K. Yanda, Vartika Tomar, Liudmila Cebotaru
Summary: ARPKD is caused by mutations in the PKHD1 gene, leading to severe complications in neonates. Research shows that FPC malfunction induces cyst formation, and CFTR correctors may be a potential treatment for ARPKD.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Review
Genetics & Heredity
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang
Summary: A 33-year-old man presented with atypical NPHP12 caused by a single heterozygous nonsense mutation in the TTC21B gene, displaying mild renal dysfunction and tubular proteinuria. The patient was initially diagnosed with chronic interstitial nephritis, but further genetic analysis confirmed the diagnosis of NPHP 12 with distinctive renal histological findings.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Pediatrics
Richard E. Overman, Cory N. Criss, Zubin J. Modi, Samir K. Gadepalli
Summary: In patients with early symptomatic ARPKD, there were no significant differences in mortality, ventilator free days, and time to full feeds between those undergoing initial unilateral or bilateral nephrectomy. However, patients undergoing initial unilateral nephrectomy had more TPN days. All children ultimately required removal of both kidneys.
JOURNAL OF PEDIATRIC SURGERY
(2021)
Review
Oncology
Parisa Kohnepoushi, Hojat Dehghanbanadaki, Pardis Mohammadzedeh, Maziar Nikouei, Yousef Moradi
Summary: This study conducted a meta-analysis to investigate the association between polycystic ovary syndrome (PCOS), hypothyroidism, and fibrocystic breast changes. The results showed that women with PCOS were at a higher risk of developing fibrocystic breast changes.
CANCER CELL INTERNATIONAL
(2022)
Article
Pathology
Junhun Cho, Seok Jin Kim, Woong-Yang Park, Jinho Kim, Jeongmin Woo, Gahyun Kim, Sang Eun Yoon, Young Hyeh Ko, Won Seog Kim
Article
Pathology
Hyun-Tae Shin, Nayoung K. D. Kim, Jae Won Yun, Boram Lee, Sungkyu Kyung, Ki-Wook Lee, Daeun Ryu, Jinho Kim, Joon Seol Bae, Donghyun Park, Yoon-La Choi, Se-Hoon Lee, Myung-Ju Ahn, Keunchil Park, Woong-Yang Park
JOURNAL OF MOLECULAR DIAGNOSTICS
(2020)
Article
Medicine, General & Internal
Jiwon M. Lee, Younhee Ko, Chul Ho Lee, Nara Jeon, Keum Hwa Lee, Jun Oh, Andreas Kronbichler, Moin A. Saleem, Beom Jin Lim, Jae Il Shin
Summary: This study investigated the changes in transcriptomes of human podocytes induced by IL-4 treatment and found that a few genes may be involved in IL-4-induced pathogenic effects on the transcriptome of human podocytes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Environmental Sciences
Ju Sun Heo, Jiwon M. Lee
Summary: The number of preterm-born adults is increasing, with studies showing that they may experience decreased renal function, including decreased glomerular filtration rate, kidney size and volume, and hypertension. However, laboratory results may not yet reflect these adverse effects.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Oncology
Joo Kyung Park, Hyemin Kim, Dae-Soon Son, Nayoung K. D. Kim, Young Kyung Sung, Minseob Cho, Chung Lee, Dong Hyo Noh, Se-Hoon Lee, Kyu Taek Lee, Jong Kyun Lee, Kee-Taek Jang, Woong-Yang Park, Kwang Hyuck Lee
Summary: This study aimed to evaluate the feasibility of targeted sequencing using minimal specimens obtained from endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) for predicting the prognosis of pancreatic ductal adenocarcinoma (PDAC). Clinical prognostic factors and genetic alterations were identified and used to establish a clinico-genomic model for predicting patient outcomes in PDAC. Targeted deep sequencing on minimal specimens of PDAC was performed, and a clinico-genomic model for prognosis prediction was developed based on 20 single nucleotide variants and three copy number variations.
Article
Biology
Hyun Je Kim, Joon Ho Shim, Ji-Hye Park, Hyun Tae Shin, Jong Sup Shim, Kee-Taek Jang, Woong-Yang Park, Kyung-Hoon Lee, Eun Ji Kwon, Hyung-Suk Jang, Hanseul Yang, Jong Hee Lee, Jun-Mo Yang, Dongyoun Lee
Summary: Kim et al. utilized single-cell RNA sequencing to analyze the transcriptome profiles of human nail units, revealing distinct mesenchymal and epithelial cell populations characterized by RSPO4 and SPINK6. The study demonstrated the specific expression patterns of RSPO4 and SPINK6 in nail tissue, suggesting the potential involvement of onychofibroblasts in the pathogenesis of onychomatricoma.
COMMUNICATIONS BIOLOGY
(2021)
Article
Pediatrics
Peong Gang Park, Hee Gyung Kang, Eujin Park, Yo Han Ahn, Hyun Jin Choi, Kyoung Hee Han, Seong Heon Kim, Heeyeon Cho, Keum Hwa Lee, Jae Il Shin, Min Hyun Cho, Joo Hoon Lee, Young Seo Park, Jayoun Kim, Il-Soo Ha
Summary: The KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD) is a subcohort of KNOW-CKD aimed at investigating the characteristics of pediatric CKD in different countries and races. The study recruited children with stage 1 to 5 CKD aged younger than 18 years in seven major pediatric nephrology centers in Korea. The baseline profiles of 437 children were analyzed, showing a predominance of males and the most common etiology being congenital anomalies of the kidney and urinary tract.
PEDIATRIC NEPHROLOGY
(2022)
Correction
Medicine, General & Internal
Eujin Park, Chung Lee, Nayoung K. D. Kim, Yo Han Ahn, Young Seo Park, Joo Hoon Lee, Seong Heon Kim, Min Hyun Cho, Heeyeon Cho, Kee Hwan Yoo, Jae Il Shin, Hee Gyung Kang, Il-Soo Ha, Woong-Yang Park, Hae Il Cheong
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
ByulA Jee, Eunjeong Seo, Kyunghee Park, Yi Rang Kim, Sun-ju Byeon, Sang Min Lee, Jae Hoon Chung, Wan Song, Hyun Hwan Sung, Hwang Gyun Jeon, Byong Chang Jeong, Seong Il Seo, Seong Soo Jeon, Hyun Moo Lee, Se Hoon Park, Woong-Yang Park, Minyong Kang
Summary: This study analyzed the genomic and transcriptomic features of metastatic ccRCC patients treated with ICIs, identified three molecular subtypes, and determined specific features associated with response and survival rates. Additionally, the research revealed a novel gene, GATM, associated with PBRM1 mutation and having tumor suppressive features in ccRCC.
Article
Oncology
Hyun Ae Jung, Keon-Uk Park, Sanghee Cho, Jinyeong Lim, Keun-Wook Lee, Min Hee Hong, Tak Yun, Ho Jung An, Woong-Yang Park, Sergio Pereira, Chan-Young Ock, Bhumsuk Keam
Summary: Nivolumab plus gemcitabine showed promising efficacy with favorable toxicity profiles in patients with advanced NPC in whom platinum-based combination chemotherapy failed.
CLINICAL CANCER RESEARCH
(2022)
Article
Biotechnology & Applied Microbiology
Jinzhuang Dou, Yukun Tan, Kian Hong Kock, Jun Wang, Xuesen Cheng, Le Min Tan, Kyung Yeon Han, Chung-Chau Hon, Woong-Yang Park, Jay W. Shin, Haijing Jin, Yujia Wang, Han Chen, Li Ding, Shyam Prabhakar, Nicholas Navin, Rui Chen, Ken Chen
Summary: Monopogen is a computational tool for identifying single-nucleotide variants (SNVs) from single-cell sequencing data. It can accurately identify 100K to 3M germline SNVs with a genotyping accuracy of 95%, as well as hundreds of putative somatic SNVs. Monopogen enables global and local ancestry inference, identification of admixed samples, and detection of variants associated with cellular processes such as cardiomyocyte metabolism and epigenomic programs. It also improves the detection of putative somatic SNVs and enables clonal lineage tracing in primary human clonal hematopoiesis.
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Jin-Mi Oh, Minae An, Dae-Soon Son, Jinhyuk Choi, Yong Beom Cho, Chang Eun Yoo, Woong-Yang Park
Summary: There are differences in the proportions of cell types between single-cell RNA sequencing (scRNA-seq) and single-nucleus RNA sequencing (snRNA-seq). The proportion of immune cells is relatively high in scRNA-seq, while the proportion of epithelial cells in the colon and hepatocytes in the liver is relatively high in snRNA-seq.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Sehhoon Park, Chung Lee, Bo Mi Ku, Minjae Kim, Woong-Yang Park, Nayoung K. D. Kim, Myung-Ju Ahn
Summary: This study compared the concordance of TMB results obtained through different sequencing methods and found a high concordance rate. The impact of capture region size on TMB values needs to be taken into consideration. Calculating TMB with LDT panel can be useful in clinical practice.
Article
Biochemistry & Molecular Biology
Hye Won Lee, Chanho Park, Je-Gun Joung, Minyong Kang, Yun Shin Chung, Won Joon Oh, Seon-Yong Yeom, Woong-Yang Park, Tae Jin Kim, Seong Il Seo
Summary: Research indicates that gamma delta T cells play a crucial role in RCC, especially with V delta 1 cells being the predominant tumor-infiltrating lymphocytes with high cytotoxic activity and correlation with anti-cancer immune activity.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2021)
Article
Medicine, General & Internal
Na Ri Kang, Yo Han Ahn, Eujin Park, Keum Hwa Lee, Hee Sun Baek, Seong Heon Kim, Heeyeon Cho, Min Hyun Cho, Jae Il Shin, Joo Hoon Lee, Hae Il Cheong, Hee Gyung Kang, Young Seo Park, Il-Soo Ha, Duk-Soo Moon, Kyoung Hee Han
Summary: This study investigated the intelligence levels and risk factors for low intelligence in children and adolescents with CKD, finding that participants with short stature, failure to thrive, more severe CKD stage, longer duration of CKD, and those who were Medicare or Medicaid beneficiaries had significantly lower intelligence levels. The association between intelligence and longer duration of CKD and growth failure remained significant after controlling for demographic and clinical variables, highlighting the importance of early interventions such as kidney transplantation.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2021)