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JAMA Cardiol 2021 Jan 13. Epub 2021 Jan 13.

Feinberg Cardiovascular Research Institute, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

Importance: Cardiac fibrosis is exceedingly rare in young adults. Identification of genetic variants that cause early-onset cardiomyopathy may inform novel biological pathways. Experimental models and a single case report have linked genetic deficiency of plasminogen activator inhibitor-1 (PAI-1), a downstream target of cardiac transforming growth factor β, with cardiac fibrosis. Read More

J Clin Endocrinol Metab 2020 Dec 25. Epub 2020 Dec 25.

Pediatric Endocrinology, Diabetology, and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth. In girls, androgen levels are low during pregnancy and childhood. A first physiologic rise of adrenal androgens is observed at the age of 6-8 years and reflects functional activation of the zona reticularis of the adrenal cortex at adrenarche manifesting clinically with first pubic and axillary hairs. Read More

Trends Cancer 2020 Nov 14. Epub 2020 Nov 14.

Terry Fox Laboratory, BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address:

DNA replication stress describes a state of impaired replication fork progress that triggers a cellular stress response to maintain genome stability and complete DNA synthesis. Replication stress is a common state that must be tolerated in many cancers. One promising therapeutic approach is targeting replication stress response factors such as the ataxia telangiectasia and rad 3-related kinase (ATR) or checkpoint kinase 1 (CHK1) kinases that some cancers depend upon to survive endogenous replication stress. Read More

Kidney Int Rep 2020 Oct 14;5(10):1823-1827. Epub 2020 Jul 14.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

Genes (Basel) 2020 Sep 29;11(10). Epub 2020 Sep 29.

Institute for Marine and Antarctic Studies (IMAS), University of Tasmania, Private Bag 49, Hobart, TAS 7001, Australia.

Sexual development involves the successive and overlapping processes of sex determination, sexual differentiation, and ultimately sexual maturation, enabling animals to reproduce. This provides a mechanism for enriched genetic variation which enables populations to withstand ever-changing environments, selecting for adapted individuals and driving speciation. The molecular mechanisms of sexual development display a bewildering diversity, even in closely related taxa. Read More

Arch Toxicol 2020 12 25;94(12):4143-4158. Epub 2020 Sep 25.

FHNW, University of Applied Sciences and Arts North-Western Switzerland, School of Life Sciences, Institute for Ecopreneurship, Hofackerstrasse 30, 4132, Muttenz, Switzerland.

In contrast to established zebrafish gene annotations, the question of sex determination has still not been conclusively clarified for developing zebrafish, Danio rerio, larvae, 28 dpf or earlier. Recent studies indicate polygenic sex determination (PSD), with the genes being distributed throughout the genome. Early genetic markers of sex in zebrafish help unravel co-founding sex-related differences to apply to human health and environmental toxicity studies. Read More

Fertil Steril 2020 07 16;114(1):133-143. Epub 2020 Jun 16.

Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan; Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan. Electronic address:

Objective: To identify the genetic etiology of recurrent disorders of sex development (DSDs) in a Taiwanese family with 46,XY sex reversal and hypospadias.

Design: Genetic and functional studies.

Setting: Academic hospital. Read More

Prog Neuropsychopharmacol Biol Psychiatry 2020 12 22;103:109973. Epub 2020 May 22.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai 200030, PR China; Shanghai Key laboratory of Sleep Disordered Breathing, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, PR China; Affiliated Hospital of Qingdao University, Biomedical Sciences Institute of Qingdao University, (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, Shandong 266003, PR China; Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, PR China; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai 200030, PR China; Shanghai Changning Mental Health Center, Shanghai 200030, PR China; Department of Psychiatry, First Teaching Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, PR China. Electronic address:

Multiple genetic risk factors have been associated with psychiatric disorders which provides the genetic insight to these disorders; however, the etiology of these disorders is still elusive. 15q13.3 was previously associated with schizophrenia, bipolar and other neurodevelopmental disorders. Read More

PLoS One 2020 30;15(3):e0230905. Epub 2020 Mar 30.

Jiangxi Provincial Key Laboratory of Preventive Medicine, School of Public Health, Nanchang University, Nanchang, Jiangxi, P.R. China.

As cancer mortality is high in most regions of the world, early screening of cancer has become increasingly important. Minimally invasive screening programs that use peripheral blood mononuclear cells (PBMCs) are a new and reliable strategy that can achieve early detection of tumors by identifying marker genes. From 797 datasets, four (GSE12771, GSE24536, GSE27562, and GSE42834) including 428 samples, 236 solid tumor cases, and 192 healthy controls were chosen according to the inclusion criteria. Read More

PeerJ 2020 19;8:e8801. Epub 2020 Mar 19.

Key Laboratory of Aquatic Genomics, Ministry of Agriculture and rural affairs, Beijing Key Laboratory of Fishery Biotechnology, Chinese Academy of Fishery Sciences, Beijing, China.

Sex reversal is a complex biological phenomenon exhibited by . Some genetic females may irreversibly convert to pseudomales, thus increasing aquaculture costs because males grow much more slowly than females. In this study, an integrative analysis of transcriptome and proteome was performed to compare differences in gene and protein expression in females and pseudomales after gonad differentiation in . Read More

Dev Dyn 2020 06 12;249(6):698-710. Epub 2020 Feb 12.

Department of Developmental Neuroscience, United Centers for Advanced Research and Translational Medicine (ART), Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Background: During development, Cajal-Retzius (CR) cells are the first generated and essential pioneering neurons that control neuronal migration and arealization in the mammalian cortex. CR cells are derived from specific regions within the telencephalon, that is, the pallial septum in the rostromedial cortex, the pallial-subpallial boundary, and the cortical hem (CH) in the caudomedial cortex. However, the molecular mechanism underlying the generation of CR cell subtypes in distinct regions of origin is poorly understood. Read More

AACE Clin Case Rep 2019 Nov-Dec;5(6):e380-e383. Epub 2019 Aug 14.

Objective: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). Read More

J Endocr Soc 2019 Dec 10;3(12):2341-2360. Epub 2019 Oct 10.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

Context: The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using traditional approaches can be difficult, especially in adults where limited biochemical data may be available.

Objective: We used a targeted next-generation sequencing approach to analyze known and candidate genes for DSDs in individuals with no specific molecular diagnosis. Read More

Int J Mol Sci 2019 Nov 4;20(21). Epub 2019 Nov 4.

Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), School of Life Sciences, Southwest University, Chongqing 400715, China.

The Sox family member Sox30 is highly expressed in the testis of several vertebrate species and has been shown to play key roles in spermiogenesis. However, its transcription regulation remains unclear. Here, we analyzed the promoter from the teleost fish Nile tilapia () and predicted a putative cis-regulatory element (CRE) for doublesex and mab-3 related transcription factor 1 (Dmrt1), a male-specific transcription factor involved in male sex differentiation. Read More

Sci Rep 2019 10 2;9(1):14213. Epub 2019 Oct 2.

Key Laboratory of Qinghai-Tibetan Plateau Animal Genetic Resource Reservation and Utilization, Sichuan Province and Ministry of Education, Southwest Minzu University, Chengdu, P.R. China.

The yak, Bos grunniens, is the only large mammal in the Qinghai-Tibet Plateau and has been bred to provide meat, milk, and transportation. Previous studies indicate that the immune system contributes to the yak's adaptation to high-altitude environments. In order to further investigate changes in immune function during yak development, we compared the transcriptome profiles of gluteus and lung tissues among yaks at 6, 30, 60, and 90 months of age. Read More

Reprod Fertil Dev 2019 Oct;31(11):1742-1752

Key Laboratory of Experimental Marine Biology, Center for Ocean Mega-Science, Institute of Oceanology, Chinese Academy of Sciences, 7 Nanhai Road, Qingdao 266071, PR China; and Laboratory for Marine Biology and Biotechnology, Pilot National Laboratory for Marine Science and Technology (Qingdao), 1 Wenhai Road, Qingdao 266237, PR China; and Corresponding author. Email:

As an important maricultured fish, the olive flounder Paralichthys olivaceus shows sex-dimorphic growth. Thus, the molecular mechanisms involved in sex control in P. olivaceus have attracted researchers' attention. Read More

Poult Sci 2019 Sep;98(9):4084-4093

State Key Laboratory of Livestock and Poultry Breeding, Guangdong Key Laboratory of Animal Breeding and Nutrition, Institute of Animal Science, Guangdong Academy of Agricultural Sciences, Guangzhou 510640, China.

Host-microbiota interactions describe a co-evolution and mutualistic symbiosis. Gut microbial communities are important for diverse host functions. However, in birds, the relationship between the composition of the intestinal microbiota and the genetic variation of the host is not clearly understood. Read More

Front Zool 2019 2;16:23. Epub 2019 Jul 2.

1Department of Earth Sciences, Palaeobiology, Uppsala University, Villavägen 16, Uppsala, Sweden.

Background: One set of the developmentally important Doublesex and Male-abnormal-3 Related Transcription factors (Dmrt) is subject of intense research, because of their role in sex-determination and sexual differentiation. This likely non-monophyletic group of Dmrt genes is represented by the gene (), the () gene, and vertebrate Dmrt1 genes. However, other members of the Dmrt family are much less well studied, and in arthropods, including the model organism , data on these genes are virtually absent with respect to their embryonic expression and function. Read More

Ecotoxicol Environ Saf 2019 Oct 9;182:109411. Epub 2019 Jul 9.

Laboratory of Biomarkers of Aquatic Contamination and Immunochemistry, Department of Biochemistry, Federal University of Santa Catarina, UFSC, Florianópolis, SC, Brazil. Electronic address:

The urban growth has increased sanitary sewage discharges in coastal ecosystems, negatively affecting the aquatic biota. Mangroves, one of the most human-affected coastal biomes, are areas for reproduction and nursing of several species. In order to evaluate the effects of sanitary sewage effluents in mangrove species, this study assessed the hepatic transcriptional responses of guppy fish Poecilia vivipara exposed to sanitary sewage 33% (v:v), using suppressive subtraction hybridization (SSH), high throughput sequencing of RNA (Ion-proton) and quantification of transcript levels by qPCR of some identified genes in fish kept in a sewage-contaminated environment. Read More

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2019 May;40(1):5-40

Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

Background: Fearful and anxious behaviour is especially common in children, when they come across new situations and experiences. The difference between normal worry and an anxiety disorder is in the severity and in the interference with everyday life and normal developmental steps. Many longitudinal studies in children suggest that anxiety disorders are relatively stable over time and predict anxiety and depressive disorders in adolescence and adulthood. Read More

Syst Biol Reprod Med 2019 Apr 14;65(2):105-120. Epub 2018 Dec 14.

b Division of Pharmacology and Toxicology , CSIR- Indian Institute of Chemical Technology , Hyderabad , India.

We aimed to survey the monogenic causes of disorders of sex development (DSD) and thereby its prevalence in India. This study revealed mutations resulting in androgen insensitivity syndrome, 5α-reductase type 2 deficiency, and gonadal dysgenesis were commonly reported. Intriguingly, AR deficits were the most prevalent (32 mutations) and of 11/26 missense mutations were in exons 4-8 (encoding ligand binding domain). Read More

Genome Biol Evol 2018 12 1;10(12):3230-3242. Epub 2018 Dec 1.

Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.

The Dmrt (doublesex and mab-3-related transcription factor) genes are transcription factors crucial for sex determination and sexual differentiation. In some social insects, doublesex (dsx) exhibits widespread caste-specific expression across different tissues and developmental stages and has been suggested as a candidate gene for regulating division of labor in social insects. We therefore conducted a molecular evolution analysis of the Dmrt gene family in 20 ants. Read More

J Fr Ophtalmol 2018 Dec 13;41(10):920-925. Epub 2018 Nov 13.

Aix-Marseille université, 13284 Marseille, France; Service d'ophtalmologie, hôpital de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille, France.

Introduction: The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now.

Case Report: We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects. Read More

Gene 2019 Mar 8;687:109-115. Epub 2018 Nov 8.

Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), Key Laboratory of Aquatic Science of Chongqing, School of Life Sciences, Southwest University, Chongqing, 400715, China. Electronic address:

The Nile tilapia Sox9b gene is characterized as a homolog of the mammalian Sox9 gene, which exhibits testis-biased expression and is involved in testis development. However, the transcriptional regulation of the Sox9b gene is poorly understood. In this study, we demonstrated that the male sex differentiation gene doublesex and mab-3 related transcription factor 1 (Dmrt1) was predominantly expressed in the Nile tilapia testis and that Dmrt1 knockdown in the Nile tilapia decreased the expression of the Sox9b gene in the testis. Read More

J Cell Biochem 2019 04 1;120(4):5652-5665. Epub 2018 Nov 1.

Department of Orthopedic Surgery, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

Osteosarcoma (OS) is a primary malignant bone tumor with high morbidity. Developing new therapeutic approaches with neoadjuvant is of great interest in OS treatment. Reportedly, ataxia telangiectasia mutated (ATM)/ataxia telangiectasia and radiation resistance gene 3 related (ATR)-p53 signaling is considered as a critical DNA damage signaling pathway sensitizing cancer cells to chemotherapies; while wild-type p53-induced phosphatase 1 (WIP1), an oncogene overexpressed in diverse cancers, has been regarded as a critical inhibitor in the ATM/ATR-p53 DNA damage signaling pathway. Read More

Heredity (Edinb) 2018 10 9;121(4):319-326. Epub 2018 Aug 9.

Centre for Applied Aquatic Genomics, Chinese Academy of Fishery Sciences, Beijing, 100141, China.

Sex reversal in insects, amphibians, reptiles, and fishes is a complicated and interesting biological phenomenon. Sex reversal changes the sex ratio of populations and may complicate breeding schemes. In the Chinese tongue sole (Cynoglossus semilaevis), genetic females may change into pseudomales, thereby increasing aquaculture costs because of the lower growth rate of the males than that of the females. Read More

3 Biotech 2018 Feb 5;8(2):111. Epub 2018 Feb 5.

4National Research Centre on Plant Biotechnology, LBS Centre, IARI, New Delhi, 110 012 India.

The present study reports the transcriptome analysis of resistance (WR315) and susceptible (JG62) genotypes of chickpea in response to f. sp. () race 4 using the method of suppression subtractive hybridization. Read More

Biochem Biophys Res Commun 2018 01 3;496(1):133-139. Epub 2018 Jan 3.

Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan; AMED-CREST, Japan Agency for Medical Research and Development, Fukuoka 812-8582, Japan. Electronic address:

Cerebral palsy (CP) is a major neuronal disease and the most common movement disorder in children. Although environmental factors leading to CP have been greatly investigated, the genetic mechanism underlying CP is not well understood. Here we focused on two clinical reports that characterized a deletion involving the KANK1 gene locus in the 9p24. Read More

Phytopathology 2017 12 16;107(12):1486-1495. Epub 2017 Oct 16.

First, second, fifth, sixth, and seventh authors: Department of Plant, Soil, and Entomological Sciences, University of Idaho, Aberdeen; third author: Department of Agronomy and Plant Genetics, University of Minnesota, St. Paul; fourth author: Department of Plant Sciences, University of California-Davis, Davis; eighth author: United States Department of Agriculture-Agricultural Research Service, Wheat Genetics, Quality, Physiology and Disease Research Unit, Pullman, WA 99164; and ninth author: Department of Plant Pathology, University of Minnesota, St. Paul.

Fusarium head blight (FHB) is a destructive disease of wheat in humid and semihumid areas of the world. It has emerged in the Pacific Northwest (PNW) in recent years because of changing climate and crop rotation practices. Our objectives in the present study were to identify and characterize quantitative trait loci (QTL) associated with FHB resistance in spring wheat lines developed in the PNW and the International Maize and Wheat Improvement Center. Read More

Clin Cancer Res 2017 Sep 14;23(18):5366-5373. Epub 2017 Jun 14.

Institut Gustave Roussy, Paris, France.

Squamous cell lung cancers (SQCLC) account for 25% of all NSCLCs, yet the prognosis of these patients is poor and treatment options are limited. Amplified is one of the most common oncogenic events in SQCLCs, occurring in approximately 20% of cases. AZD4547 is a potent and selective FGFR1-3 inhibitor with antitumor activity in -amplified SQCLC cell lines and patient-derived xenografts. Read More