Article
Endocrinology & Metabolism
Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen
Summary: This study identified the genetic etiologies of Taiwanese children with the most severe diazoxide-unresponsive CHI and found that pathogenic variants in K-ATP channels are the most common cause. The p.T1042QfsX75 variant in the ABCC8 gene may have a founder effect. In addition, a mutation in the GCK gene and three rare variants in the SUR1 channel were also associated with the diazoxide-unresponsive phenotype.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Chisa Inoue, Kota Nishihama, Aoi Hayasaki, Yuko Okano, Akinobu Hayashi, Kazuhito Eguchi, Mei Uemura, Toshinari Suzuki, Taro Yasuma, Takeshi Inoue, Tohru Yorifuji, Shugo Mizuno, Esteban C. Gabazza, Yutaka Yano
Summary: The patient is a 28-year-old Japanese man diagnosed with severe congenital hyperinsulinemic-hypoglycemia. He developed necrotizing acute pancreatitis at 28 years of age, which was thought to be caused by diazoxide. After surgery, his hypoglycemia improved.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pediatrics
Rana Al Balwi, Dalal Bubshait, Raed Al Nefily, Omar Al Ghamdi
Summary: Congenital hyperinsulinism (CHI) is a condition characterized by dysregulated insulin secretion leading to severe hypoglycemia. Mutations in the ABCC8 and KCNJ11 genes are common among CHI patients, with autosomal recessive CHI being the most prevalent type among Saudi patients. Implications of novel compound heterozygous variants in the ABCC8 gene in a Saudi infant with diazoxide-unresponsive CHI were discussed, highlighting the potential pathogenicity of the variants.
Article
Endocrinology & Metabolism
Kara E. Boodhansingh, Zhongying Yang, Changhong Li, Pan Chen, Katherine Lord, Susan A. Becker, Lisa J. States, N. Scott Adzick, Tricia Bhatti, Show-Ling Shyng, Arupa Ganguly, Charles A. Stanley, Diva D. De Leon
Summary: This study aimed to characterize the phenotype and genotype of children with Localized Islet Nuclear Enlargement (LINE)-hyperinsulinism (HI). The results showed that children with LINE-HI had lower birth weights and later ages of presentation compared to those with typical focal or diffuse HI. Partial pancreatectomy was found to be curative for most LINE-HI cases and none of the cases developed diabetes.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Wafaa Laimon, Hadil Mohamed Aboelenin, Noha T. El Tantawi
Summary: ABCC8 mutation was the most common genetic mutation in this study, and patients with biparental homozygous ABCC8 mutation may respond to combined octreotide and diazoxide therapy. More than 50% of patients had neurodevelopmental impairment at follow-up. Delayed referral, delayed diagnosis, and longer hospital stay are significant predictors of neurological disability in CHI cases.
PEDIATRIC DIABETES
(2021)
Article
Endocrinology & Metabolism
Maria Clemente, Patricia Cobo, Maria Antolin, Ariadna Campos, Diego Yeste, Rosangela Tomasini, Maria Caimari, Miriam Masas, Elena Garcia-Arumi, Monica Fernandez-Cancio, Noelia Baz-Redon, Nuria Camats-Tarruella
Summary: This study describes the genetic characteristics and natural history of non-pancreatectomized patients with congenital hyperinsulinism due to ABCC8 gene variants. It was found that 70.6% of these patients experienced spontaneous resolution, with some progressing to diabetes with insufficient insulin secretion. Therefore, conservative medical treatment is a reliable management strategy.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Dara Aldisi, Mohammed G. A. Ansari, Syed Danish Hussain, Abdulrahman Al-Matary, Fahima Mohamad AlSomali, Reem Ibrahem Alturaif, Ihtisham Bukhari
Summary: Diabetes Mellitus (DM) is a common disorder affecting people of all ages, and the rates of gestational diabetes mellitus (GDM) and neonatal diabetes mellitus (NDM) are increasing. However, the genetic causes and relationship between GDM and NDM are not yet established, especially in the Arab population. This study explored the prevalence of ABCC8 and KCNJ11 variants in Saudi neonates and analyzed the influence of parental diabetes and GDM on NDM.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2023)
Article
Endocrinology & Metabolism
Qiong Chen, Yongxing Chen, Xiaohong Wang, Haihua Yang, Yingxian Zhang, Xiaojing Liu, Yun Yan, Haiyan Wei
Summary: This report presents a case of a CHI patient who had persistent hypoglycemia after subtotal pancreatectomy, but showed remarkable improvement in glycemic control with sirolimus therapy. The findings suggest that sirolimus may be an effective treatment option in CHI patients resistant to established medical therapy or surgery. Long-term safety of sirolimus therapy in young patients needs further study.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio
Summary: This study investigated the clinical pathophysiology among three cases with CHI caused by a homogenous novel mutation in ABCC8. It was found that phenotypic variation may not be caused by differences in splicing factor machinery, suggesting a need for more deliberate selection of therapeutic options in diffuse CHI due to biallelic ABCC8 mutations, despite early genetic diagnosis contributing to selecting appropriate therapeutic options.
CLINICAL ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M. Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S. Birk
Summary: Hyperinsulinism/hyperammonemia (HI/HA) syndrome can be caused by gain-of-function mutations in GLUD1 or biallelic mutations in SLC25A36. The mutations result in hyperactivation of glutamate dehydrogenase and reduced activity of pyrimidine nucleotide carrier 2. This study confirms the role of SLC25A36 mutations in HI/HA syndrome and provides further understanding of the disease phenotype.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Medicine, General & Internal
Meng-Tong Liu, Hui-Xia Yang
Summary: In this case, neonatal hyperinsulinism was caused by poor glycemic control in the mother with pregestational diabetes mellitus. Whole-exome sequencing identified a new mutation in the ABCC8 gene, highlighting the importance of genetic disorders and long-term prognosis in hypoglycemic children.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Endocrinology & Metabolism
Miguel Angel De los Santos-La Torre, Carlos Manuel Del Aguila-Villar, Luis Romulo Lu-de Lama, Oswaldo Nunez-Almache, Eliana Manuela Chavez-Tejada, Oscar Antonio Espinoza-Robles, Paola Marianella Pinto-Ibarcena, Martha Rosario Calagua-Quispe, Pamela Miluska Azabache-Tafur, Rosa Maria Tucto-Manchego
Summary: Congenital hyperinsulinism is a heterogeneous disorder with variable clinical phenotypes caused by pathogenic variants in multiple genes. Hyperinsulinism-hyperammonemia syndrome, characterized by fasting and postprandial hypoglycemia and mild hyperammonemia with associated neurological abnormalities, is the second most common cause of the disease. We present two Peruvian children with epilepsy who were found to have missense mutations in the GLUD1 gene, which responded well to diazoxide therapy, and highlight the importance of timely diagnosis for proper management.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Lisa J. States, J. Christopher Davis, Steven M. Hamel, Susan A. Becker, Hongming Zhuang
Summary: Congenital hyperinsulinism is a condition characterized by persistent hypoglycemia due to excessive insulin secretion, with varying clinical course and potential cure through surgical resection of focal lesions.F-18-6-fluoro-L-dopa PET/CT plays a vital role in detection and management of this condition.
JOURNAL OF NUCLEAR MEDICINE
(2021)
Article
Genetics & Heredity
Marina Yukina, Ekaterina Solodovnikova, Sergey Popov, Victorya Zakharova, Marina Utkina, Vasiliy Petrov, Ekaterina Troshina, Natalia Mokrysheva
Summary: This article presents a unique clinical case of a patient with NDH and genetically verified MEN1 in combination with congenital hyperinsulinism due to an ABCC8 gene mutation. Multiple examinations were performed to establish an accurate diagnosis and possible pathogenetic mechanisms of the mild course of hypoglycemic syndrome and hyperglycemic conditions are discussed.
Article
Neurosciences
Karim Gariani, Antoine Klauser, Maria Isabel Vargas, Francois Lazeyras, Christel Tran
Summary: Hyperinsulinism/hyperammonemia syndrome (HI/HA) is caused by activating mutations in the GLUD1 gene, leading to insulin overproduction and chronic asymptomatic hyperammonemia. Brain magnetic resonance imaging in HI/HA patients shows differences in brain biochemistry compared to other hyperammonemia disorders, with normal levels of combined glutamate and glutamine.
Article
Genetics & Heredity
Maria Pina Concas, Alessandra Minelli, Susanna Aere, Anna Morgan, Paola Tesolin, Paolo Gasparini, Massimo Gennarelli, Giorgia Girotto
Summary: Human personality is a complex trait related to mental health, influenced by genetic and environmental factors. This study identified four new genes associated with different temperament scales, contributing to the understanding of the molecular basis of psychiatric disorders.
Editorial Material
Pediatrics
Francesco Baldo, Andrea Magnolato, Irene Bruno, Flavio Faletra, Marco Carbone, Egidio Barbi
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2022)
Article
Psychiatry
Vincenzo Dattilo, Sheila Ulivi, Alessandra Minelli, Martina La Bianca, Edoardo Giacopuzzi, Marco Bortolomasi, Stefano Bignotti, Massimo Gennarelli, Paolo Gasparini, Maria Pina Concas
Summary: This study identified new possible genes associated with major depressive disorder (MDD) using a genome-wide association study (GWAS) approach. The findings confirmed the polygenic nature of MDD. Further research is needed to better understand the role of these genes in MDD.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Article
Environmental Sciences
Daniela Dibello, Lucio Torelli, Valentina Di Carlo, Adamo Pio d'Adamo, Flavio Faletra, Alessandro Mangogna, Giulia Colin
Summary: This study uses the Certificate of Delivery Care Registry database from the Italian Ministry of Health to conduct a descriptive study on the incidence of clubfoot in Italy and calls for a reevaluation of the existing data. The study aims to provide a framework for future epidemiological research.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Federico Baronio, Francesca Conti, Angela Miniaci, Filomena Carfagnini, Valeria Di Natale, Giulio Di Donato, Matthias Testi, Camilla Totaro, Alessandro De Fanti, Sara Boenzi, Carlo Dionisi-Vici, Susanna Esposito, Andrea Pession
Summary: We report a case of Wolman Disease (WD) in an infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa. This case highlights the importance of early diagnosis of WD and the difficulties in diagnosing the HLH phenotype. Sebelipase alfa is an effective treatment for LAL deficiency in children with WD.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Editorial Material
Pediatrics
Gianluca Tamaro, Francesco Baldo, Beatrice Spedicati, Andrea Taddio, Flavio Faletra, Egidio Barbi
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2023)
Article
Environmental Sciences
Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci
Summary: Biotinidase deficiency (BD) is an autosomal recessive inherited disorder that can be diagnosed early through newborn bloodspot screening (NBS), preventing high morbidity and mortality associated with untreated disease. A study analyzing the data of the first 3 years of NBS for BD in Italy found a small number of newborns carrying genotypes associated with partial BD. The positive predictive value of the screening program was 18%.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d'Adamo, Luciana Musante
Summary: CSNK2B encodes the regulatory subunit of casein kinase II, which is involved in brain development and function. De novo mutations in CSNK2B have been linked to neurodevelopmental disorders, including seizures and intellectual disability. This study investigates the functional impact of two CSNK2B mutations and suggests a continuous spectrum of CSNK2B-associated phenotypes.
Article
Genetics & Heredity
Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto
Summary: This study focuses on the genetic characterization of hereditary cardiovascular diseases, including cardiomyopathies, channelopathies, and aortopathies and pulmonary arterial hypertension. The majority of patients analyzed in this study were affected by cardiomyopathies, and a higher detection rate was observed in familial forms compared to sporadic cases. Further clinical follow-up and reevaluation of genetic data will be necessary for patients with negative results.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
Summary: Hearing loss is a common disorder affecting newborns, with hereditary forms accounting for a significant proportion of cases. This study used various genetic testing methods to identify the molecular cause of hearing loss in a group of patients. The overall detection rate was 47.6% for non-syndromic hearing loss and 55% for syndromic hearing loss. Additionally, the study identified individuals with dual molecular diagnoses and non-syndromic mimics, including cases of Usher syndrome type 2.
Article
Pediatrics
Giulia Lucignani, Leonardo Vattermoli, Maria Camilla Rossi-Espagnet, Alessia Guarnera, Antonio Napolitano, Lorenzo Figa-Talamanca, Francesca Campi, Sara Ronci, Carlo Dionisi Vici, Diego Martinelli, Carlo Gandolfo, Daniela Longo
Summary: Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive inborn error of metabolism caused by gene mutations, resulting in neurotoxicity and early neurodegeneration. MRI is the imaging of choice for diagnosis, showing characteristic radiological findings such as diffuse cerebral edema, infarction, and multicystic encephalomalacia. Our case report presents a novel contrast-enhanced MRI pattern characterized by diffuse and linear leptomeningeal enhancement, which was performed to exclude an infectious disease. Early identification of MoCD is crucial for prompt and effective management of the complications.
Article
Chemistry, Multidisciplinary
Alba Nin-Hill, Albert Ardevol, Xevi Biarnes, Antoni Planas, Carme Rovira
Summary: Bacterial beta-glycosidases are enzymes that can hydrolyze polysaccharides. This study investigates the impact of the interaction between the reactive sugar and the catalytic nucleophile on substrate conformation. The results show that a hydrogen bond involving the C2 exocyclic group and the nucleophile controls the substrate's conformation. This finding is important for understanding substrate recognition and catalysis in endo-glycosidases.
CHEMISTRY-A EUROPEAN JOURNAL
(2023)
Review
Pediatrics
Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo, Laura Travan
Summary: This article reports a case of a premature twin patient who developed clinical features compatible with BWS during follow-up. The phenotypically normal sibling also showed the characteristic methylation alteration of the condition. The article emphasizes the diagnosis of BWS without any prenatal suspicion and the management of siblings of affected patients in twinning situation.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Milena Pizzoferro, Gabriele Masselli, Arianna Maiorana, Emanuele Casciani, Saadi Sollaku, Carlo Dionisi-Vici, Marco Spada, Claudio Altini, Maria Felicia Villani, Vittoria Rufini, Gianfranco Gualdi, Maria Carmen Garganese
Summary: Congenital hyperinsulinism (HI) is a life-threatening condition that requires accurate diagnosis and treatment. Integrated PET/CT scan is a crucial imaging technique that can help differentiate between different forms of HI and guide surgical treatment.
AMERICAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
