Skip to Content
You are currently on the new version of our website. Access the old version .

31 Results Found

  • Article
  • Open Access
6 Citations
4,459 Views
13 Pages

KITLG Promotes Glomerular Endothelial Cell Injury in Diabetic Nephropathy by an Autocrine Effect

  • Jiun-Chi Huang,
  • Szu-Chia Chen,
  • Wei-An Chang,
  • Wei-Wen Hung and ,
  • Ping-Hsun Wu,
  • Ling-Yu Wu,
  • Jer-Ming Chang,
  • Ya-Ling Hsu and
  • Yi-Chun Tsai
  • + 4 authors+ 0 author

3 October 2022

Diabetic nephropathy (DN) is an increasing threat to human health. The impact of hyperglycemia or its metabolites, advanced glycation end-products (AGEs), on glomerular endothelial cells (GECs) and their pathophysiologic mechanisms are not well explo...

(This article belongs to the Special Issue Advances in the Pathogenesis of Diabetic Kidney Disease)
  • Article
  • Open Access
37 Citations
23,881 Views
13 Pages

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG

  • Kalie Weich,
  • Verena Affolter,
  • Daniel York,
  • Robert Rebhun and ,
  • Robert Grahn,
  • Angelica Kallenberg and
  • Danika Bannasch
  • + 2 authors+ 0 author

9 January 2020

Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin...

(This article belongs to the Special Issue Coat Color Genetics)
  • Article
  • Open Access
4 Citations
5,866 Views
11 Pages

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers

  • Heike Aupperle-Lellbach,
  • Daniela Heidrich,
  • Alexandra Kehl,
  • David Conrad and ,
  • Maria Brockmann,
  • Katrin Törner,
  • Christoph Beitzinger and
  • Tobias Müller
  • + 3 authors+ 0 author

11 February 2023

Copy number variations (CNVs) of the KITLG gene seem to be involved in the oncogenesis of digital squamous cell carcinoma (dSCC). The aims of this study were (1) to investigate KITLG CNV in giant (GS), standard (SS), and miniature (MS) schnauzers and...

(This article belongs to the Section Anatomy, Histology and Pathology)
  • Article
  • Open Access
10 Citations
8,618 Views
14 Pages

Molecular Genetic Investigation of Digital Melanoma in Dogs

  • David Conrad,
  • Alexandra Kehl,
  • Christoph Beitzinger,
  • Thomas Metzler and ,
  • Katja Steiger,
  • Nicole Pfarr,
  • Konrad Fischer,
  • Robert Klopfleisch and
  • Heike Aupperle-Lellbach
  • + 4 authors+ 0 author

30 January 2022

Canine digital melanoma, in contrast to canine oral melanoma, is still largely unexplored at the molecular genetic level. The aim of this study was to detect mutant genes in digital melanoma. Paraffin-embedded samples from 86 canine digital melanomas...

(This article belongs to the Special Issue Advances in Understanding Spontaneously Occurring Melanoma in Animals)
  • Article
  • Open Access
8 Citations
12,905 Views
11 Pages

Genome-Wide Association Study Identifies Candidate Genes for Stripe Pattern Feather Color of Rhode Island Red Chicks

  • Qingmiao Shen,
  • Jieke Zhou,
  • Junying Li,
  • Xiaoyu Zhao and ,
  • Lijie Zheng,
  • Haigang Bao and
  • Changxin Wu
  • + 2 authors+ 0 author

24 August 2022

Feather colors of chickens are not only characteristics of breeds but also as phenotypic markers in chicken breeding. Pure-bred Rhode Island Red (RIR) chicks have a stripe pattern and a non-stripe pattern on the back. The stripe pattern of RIR is gen...

(This article belongs to the Section Animal Genetics and Genomics)
  • Correction
  • Open Access
7 Citations
3,030 Views
3 Pages

Correction: Weich, K., et al. Pigment Intensity in Dogs Is Associated with a Copy Number Variant Upstream of KITLG. Genes 2020, 11, 75

  • Danika L. Bannasch,
  • Verena K. Affolter,
  • Daniel York,
  • Robert B. Rebhun and ,
  • Robert A. Grahn,
  • Kalie M. Weich and
  • Angelica Kallenberg
  • + 2 authors+ 0 author

1 March 2021

The authors wish to make the following corrections to this paper [...]

(This article belongs to the Special Issue Coat Color Genetics)
  • Article
  • Open Access
5 Citations
4,478 Views
13 Pages

Evaluating the Histologic Grade of Digital Squamous Cell Carcinomas in Dogs and Copy Number Variation of KIT Ligand—A Correlation Study

  • Argiñe Cerezo-Echevarria,
  • Alexandra Kehl,
  • Christoph Beitzinger,
  • Tobias Müller and ,
  • Robert Klopfleisch and
  • Heike Aupperle-Lellbach
  • + 1 author+ 0 author

24 January 2023

Dark-haired dogs are predisposed to the development of digital squamous cell carcinoma (DSCC). This may potentially suggest an underlying genetic predisposition not yet completely elucidated. Some authors have suggested a potential correlation betwee...

(This article belongs to the Section Anatomy, Histology and Pathology)
  • Article
  • Open Access
11 Citations
4,739 Views
19 Pages

An In Vitro Model of Mast Cell Recruitment and Activation by Breast Cancer Cells Supports Anti-Tumoral Responses

  • Angélica Aponte-López,
  • Jennifer Enciso,
  • Samira Muñoz-Cruz and
  • Ezequiel M. Fuentes-Pananá

Breast cancer (BrC) affects millions of women yearly. Mast cells (MCs) are common components of breast tumors with documented agonistic and antagonistic roles in tumor progression. Understanding the participation of MCs in BrC may lead to new therapi...

(This article belongs to the Special Issue Role of Innate Immune Cells in the Tumor Progression and Metastasis)
  • Article
  • Open Access
7 Citations
3,345 Views
11 Pages

CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma

  • Dora Raos,
  • Irena Abramović,
  • Miroslav Tomić,
  • Alen Vrtarić and ,
  • Tomislav Kuliš,
  • Marijana Ćorić,
  • Monika Ulamec,
  • Ana Katušić Bojanac,
  • Davor Ježek and
  • Nino Sinčić
  • + 5 authors+ 0 author

31 December 2021

Seminoma (SE) is the most frequent type of testicular tumour, affecting predominantly young men. Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation...

(This article belongs to the Special Issue Testicular Cancer)
  • Feature Paper
  • Review
  • Open Access
4 Citations
7,253 Views
19 Pages

Prediction of Skin Color Using Forensic DNA Phenotyping in Asian Populations: A Focus on Thailand

  • Gabriel Perez Palomeque,
  • Supakit Khacha-ananda,
  • Tawachai Monum and
  • Klintean Wunnapuk

9 April 2025

Forensic DNA phenotyping (FDP) has emerged as an essential tool in criminal investigations, enabling the prediction of physical traits based on genetic information. This review explores the genetic factors influencing skin pigmentation, particularly...

(This article belongs to the Section Molecular Genetics)
  • Article
  • Open Access
1 Citations
1,902 Views
14 Pages

30 November 2024

Tong sheep, known for their superior meat quality and disease resilience, face breeding challenges due to low prolificacy, unlike Hu sheep, which exhibit higher fertility and growth rates. This study identified over 700,000 genetic variants between t...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
711 Views
23 Pages

MicroRNAs regulate gene expression post-transcriptionally, yet target prediction faces a credibility gap: published methods drop sharply against CLIP-seq-validated negatives. We present DeepExoMir, a deep learning framework integrating frozen RiNALMo...

(This article belongs to the Special Issue Harnessing Bioinformatics for miRNA Research: Methods, Insights and Applications)
  • Article
  • Open Access
7 Citations
1,830 Views
14 Pages

Genome-Wide Association Study of Body Size Traits in Luning Chickens Using Whole-Genome Sequencing

  • Zhiyi Li,
  • Yi Nong,
  • Yuan Liu,
  • Zi Wang and ,
  • Jiayan Wang and
  • Zhixiong Li
  • + 1 author+ 0 author

27 March 2025

Growth traits are crucial for poultry breeding and production. Marker-assisted selection (MAS) and genomic selection (GS) of growth traits require a substantial number of accurate genetic markers. A genome-wide association study (GWAS) for body size...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
43 Citations
7,204 Views
22 Pages

10 October 2019

The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e., GonadoBlastoma on...

(This article belongs to the Special Issue Molecular Aspects of Sex Development in Mammals: New Insight)
  • Feature Paper
  • Article
  • Open Access
7 Citations
5,524 Views
17 Pages

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants

  • William Bertani-Torres,
  • Karina Lezirovitz,
  • Danillo Alencar-Coutinho,
  • Eliete Pardono and ,
  • Silvia Souza da Costa,
  • Larissa do Nascimento Antunes,
  • Judite de Oliveira,
  • Paulo Alberto Otto,
  • Véronique Pingault and
  • Regina Célia Mingroni-Netto
  • + 5 authors+ 0 author

21 December 2023

Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia can...

(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
  • Article
  • Open Access
23 Citations
4,141 Views
12 Pages

Detection of Selection Signatures Underlying Production and Adaptive Traits Based on Whole-Genome Sequencing of Six Donkey Populations

  • Zihui Zhou,
  • Yingzhi Fan,
  • Gang Wang,
  • Zhenyu Lai and ,
  • Yuan Gao,
  • Fei Wu,
  • Chuzhao Lei and
  • Ruihua Dang
  • + 3 authors+ 0 author

7 October 2020

Donkeys (Equus asinus) are an important farm animal. After long-term natural and artificial selection, donkeys now exhibit a variety of body sizes and production performance values. In this study, six donkey breeds, representing different regions and...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
5,864 Views
13 Pages

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome

  • Paula Inés Buonfiglio,
  • Agustín Izquierdo,
  • Mariela Vanina Pace,
  • Sofia Grinberg and ,
  • Vanesa Lotersztein,
  • Paloma Brun,
  • Carlos David Bruque,
  • Ana Belén Elgoyhen and
  • Viviana Dalamón
  • + 4 authors+ 0 author

27 August 2024

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2–5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associ...

(This article belongs to the Section Epigenetic Therapy)
  • Article
  • Open Access
5 Citations
2,847 Views
11 Pages

Large-Sample Genome-Wide Association Study of Resistance to Retained Placenta in U.S. Holstein Cows

  • Dzianis Prakapenka,
  • Zuoxiang Liang,
  • Hafedh B. Zaabza,
  • Paul M. VanRaden and ,
  • Curtis P. Van Tassell and
  • Yang Da
  • + 1 author+ 0 author

A genome-wide association study of resistance to retained placenta (RETP) using 632,212 Holstein cows and 74,747 SNPs identified 200 additive effects with p-values < 10−8 on thirteen chromosomes but no dominance effect was statistically sign...

(This article belongs to the Special Issue Physiology and Pathophysiology of Placenta)
  • Article
  • Open Access
18 Citations
5,325 Views
15 Pages

The Transcriptional Cell Atlas of Testis Development in Sheep at Pre-Sexual Maturity

  • Yi Wu,
  • Tingting Guo,
  • Jianye Li,
  • Chune Niu and ,
  • Weibo Sun,
  • Shaohua Zhu,
  • Hongchang Zhao,
  • Guoyan Qiao,
  • Mei Han and
  • Yaojing Yue
  • + 11 authors+ 6 authors

Sheep testes undergo a dramatic rate of development with structural changes during pre-sexual maturity, including the proliferation and maturation of somatic niche cells and the initiation of spermatogenesis. To explore this complex process, 12,843 t...

(This article belongs to the Special Issue Multipotent and Multisystem Biomolecules—Associated Interlinking Networks and Crossing Organ Differentiation)
  • Article
  • Open Access
32 Citations
13,276 Views
18 Pages

Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample

  • Bochao Danae Lin,
  • Hamdi Mbarek,
  • Gonneke Willemsen,
  • Conor V. Dolan and ,
  • Iryna O. Fedko,
  • Abdel Abdellaoui,
  • Eco J. De Geus,
  • Dorret I. Boomsma and
  • Jouke-Jan Hottenga
  • + 4 authors+ 0 author

13 July 2015

Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
33 Citations
5,989 Views
16 Pages

Genomic Diversity Profiling and Breed-Specific Evolutionary Signatures of Selection in Arunachali Yak

  • Aneet Kour,
  • Saket Kumar Niranjan,
  • Mohan Malayaperumal,
  • Utsav Surati and ,
  • Martina Pukhrambam,
  • Jayakumar Sivalingam,
  • Amod Kumar and
  • Mihir Sarkar
  • + 3 authors+ 0 author

28 January 2022

Arunachali yak, the only registered yak breed of India, is crucial for the economic sustainability of pastoralist Monpa community. This study intended to determine the genomic diversity and to identify signatures of selection in the breed. Previously...

(This article belongs to the Special Issue Animal Domestication and Breeding)
  • Article
  • Open Access
10 Citations
3,963 Views
16 Pages

Resequencing Composite Kazakh Whiteheaded Cattle: Insights into Ancestral Breed Contributions, Selection Signatures, and Candidate Genetic Variants

  • Aigerim K. Khamzina,
  • Alexander V. Igoshin,
  • Zhadyra U. Muslimova,
  • Asset A. Turgumbekov and ,
  • Damir M. Khussainov,
  • Nikolay S. Yudin,
  • Yessengali S. Ussenbekov and
  • Denis M. Larkin
  • + 3 authors+ 0 author

29 January 2025

This study investigates the genetic architecture of the Kazakh Whiteheaded (KWH) cattle, applying population genetics approaches to resequenced genomes. FST analysis of 66 cattle breeds identified breeds for admixture analysis. At K = 19, the composi...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
23 Citations
5,364 Views
20 Pages

Potential Candidate Genes Associated with Litter Size in Goats: A Review

  • Wenting Chen,
  • Ying Han,
  • Yinghui Chen,
  • Xiaotong Liu and ,
  • Huili Liang,
  • Changfa Wang and
  • Muhammad Zahoor Khan
  • + 2 authors+ 0 author

2 January 2025

This review examines genetic markers associated with litter size in goats, a key reproductive trait impacting productivity in small ruminant farming. Goats play a vital socioeconomic role in both low- and high-income regions; however, their productiv...

(This article belongs to the Special Issue Genetics and Genomics of Small Ruminants Prolificacy)
  • Article
  • Open Access
1 Citations
1,271 Views
18 Pages

Single-Nucleus Transcriptional Profiling Revealed Cell Diversity and Albino Mutation Mechanism in the Skin of Channa argus

  • Lu Zhang,
  • Jian Zhou,
  • Qiang Li,
  • Hongyu Ke and ,
  • Zhipeng Huang,
  • Zhongmeng Zhao,
  • Han Zhao,
  • Chengyan Mou,
  • Wei Fan and
  • Yuanliang Duan
  • + 5 authors+ 0 author

20 January 2026

Body color is the most prominent phenotypic trait in animals. To investigate the molecular regulatory mechanisms underlying skin pigmentation and body color in Channa argus, single-nucleus RNA sequencing technology was employed to analyze cell divers...

(This article belongs to the Topic Single-Cell Technologies: From Research to Application)
  • Article
  • Open Access
34 Citations
9,744 Views
8 Pages

A Frameshift Mutation in KIT is Associated with  White Spotting in the Arabian Camel

  • Heather Holl,
  • Ramiro Isaza,
  • Yasmin Mohamoud,
  • Ayeda Ahmed and ,
  • Faisal Almathen,
  • Cherifi Youcef,
  • Semir Gaouar,
  • Douglas F. Antczak and
  • Samantha Brooks
  • + 4 authors+ 0 author

9 March 2017

While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories s...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
33 Citations
9,255 Views
13 Pages

Parabens Accelerate Ovarian Dysfunction in a 4-Vinylcyclohexene Diepoxide-Induced Ovarian Failure Model

  • Jae-Hwan Lee,
  • Myeongho Lee,
  • Changhwan Ahn,
  • Hee Young Kang and ,
  • Dinh Nam Tran and
  • Eui-Bae Jeung
  • + 1 author+ 0 author

Parabens are widely used preservatives in basic necessities such as cosmetic and pharmaceutical products. In previous studies, xenoestrogenic actions of parabens were reported in an immature rat model and a rat pituitary cell line (GH3 cells). The re...

(This article belongs to the Section Environmental Health)
  • Article
  • Open Access
6 Citations
2,942 Views
16 Pages

Peritoneal Endometriosis Impairs Ovarian Reserve and Increases Atresia in a Rat Model

  • Analía Ricci,
  • Tatiana Bengochea,
  • Carla Olivares,
  • Sofía del Valle and ,
  • Julieta Simone,
  • Kristina Gemzell-Danielsson,
  • Rosa Inés Barañao,
  • Gabriela Meresman and
  • Mariela Bilotas
  • + 4 authors+ 0 author

Background/Objectives: Endometriosis has a marked impact on fertility, although the mechanisms behind this relationship remain poorly understood, particularly in cases without significant anatomical distortions or in the context of ovarian endometrio...

(This article belongs to the Section Cell Biology and Pathology)
  • Article
  • Open Access
2 Citations
3,192 Views
15 Pages

Transcriptomic Analysis of PDCoV-Infected HIEC-6 Cells and Enrichment Pathways PI3K-Akt and P38 MAPK

  • Yuhang Jiang,
  • Guoqing Zhang,
  • Letian Li,
  • Maopeng Wang and ,
  • Jing Chen,
  • Pengfei Hao,
  • Zihan Gao,
  • Jiayi Hao,
  • Chang Li and
  • Ningyi Jin
  • + 5 authors+ 0 author

9 April 2024

Porcine Deltacoronavirus (PDCoV) is a newly identified coronavirus that causes severe intestinal lesions in piglets. However, the understanding of how PDCoV interacts with human hosts is limited. In this study, we aimed to investigate the interaction...

(This article belongs to the Collection Coronaviruses)
  • Article
  • Open Access
2 Citations
2,313 Views
28 Pages

2 September 2025

Doxorubicin (Dox) is not a first-line treatment for melanoma due to limited antitumor efficacy and dose-dependent cardiotoxicity. However, sublethal doses may trigger adaptive cellular responses that influence tumor progression and systemic toxicity....

(This article belongs to the Special Issue Melanoma: Molecular Mechanism and New Agents for Prevention and Therapy)
  • Article
  • Open Access
34 Citations
4,783 Views
14 Pages

Association of Polymorphisms in Candidate Genes with the Litter Size in Two Sheep Breeds

  • Zehu Yuan,
  • Junxia Zhang,
  • Wanhong Li,
  • Weimin Wang and ,
  • Fadi Li and
  • Xiangpeng Yue
  • + 1 author+ 0 author

12 November 2019

Hu sheep and Small-tailed Han sheep are the most widely raised and most famous maternal sheep breeds in China, which are known for precocious puberty, perennial oestrus and high fecundity (1–6 lambs each parity). Therefore, it is crucial to inc...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
1 Citations
5,247 Views
23 Pages

Genetics of Waardenburg Syndrome in Africa: A Systematic Review

  • Elvis Twumasi Aboagye,
  • Ramses Peigou Wonkam,
  • Carmen de Kock,
  • Collet Dandara and
  • Ambroise Wonkam

22 December 2025

Waardenburg syndrome (WS) represents a group of genetic conditions characterized by auditory and pigmentation defects. Pathogenic variants in PAX3, MITF, SOX10, EDN3, EDNRB, SNAI2, and KITLG genes have been associated with WS across multiple populati...

(This article belongs to the Special Issue Hearing Loss: Recent Progress in Molecular Genomics)