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  • Article
  • Open Access
7 Citations
3,634 Views
19 Pages

Proto-Oncogene FAM50A Can Regulate the Immune Microenvironment and Development of Hepatocellular Carcinoma In Vitro and In Vivo

  • Xudong Xie,
  • Li Li,
  • Shuai Tao,
  • Mingsheng Chen,
  • Ling Fei,
  • Qunling Yang,
  • Chenlu Huang and
  • Liang Chen

6 February 2023

Hepatocellular carcinoma (HCC) is a vital global health problem. The characteristics are high morbidity, high mortality, difficulty in early diagnosis and insensitivity to chemotherapy. The main therapeutic schemes for treating HCC mainly include Tyr...

  • Review
  • Open Access
13 Citations
3,880 Views
16 Pages

29 February 2024

Proteases are critical enzymes in cellular processes which regulate intricate events like cellular proliferation, differentiation and apoptosis. This review highlights the multifaceted roles of the serine proteases FAM111A and FAM111B, exploring thei...

  • Article
  • Open Access
48 Citations
13,827 Views
16 Pages

FAM83A and FAM83B as Prognostic Biomarkers and Potential New Therapeutic Targets in NSCLC

  • Sarah Richtmann,
  • Dennis Wilkens,
  • Arne Warth,
  • Felix Lasitschka,
  • Hauke Winter,
  • Petros Christopoulos,
  • Felix J. F. Herth,
  • Thomas Muley,
  • Michael Meister and
  • Marc A. Schneider

11 May 2019

Although targeted therapy has improved the survival rates in the last decade, non-small-cell lung cancer (NSCLC) is still the most common cause of cancer-related death. The challenge of identifying new targets for further effective therapies still re...

  • Article
  • Open Access
1,885 Views
18 Pages

FAM98 Family Proteins Play Distinct Roles in Osteoclastogenesis and Bone Resorption

  • Lei Wang,
  • Tarun Minocha,
  • Bhaba K. Das,
  • Mikaela D. Kunika,
  • Aarthi Kannan,
  • Ling Gao,
  • Subburaman Mohan,
  • Weirong Xing,
  • Kottayil I. Varughese and
  • Haibo Zhao

9 January 2025

There are three FAM98 family proteins (FAM98A/B/C) in humans and mice. Their physiological functions remain largely unknown. We have previously reported that Fam98a interacts with Plekhm1 in murine osteoclasts and functions in lysosome trafficking/se...

  • Article
  • Open Access
5 Citations
2,026 Views
13 Pages

FAM111B Acts as an Oncogene in Bladder Cancer

  • Ning Huang,
  • Lei Peng,
  • Jiaping Yang,
  • Jinqian Li,
  • Sheng Zhang and
  • Mingjuan Sun

24 October 2023

Bladder cancer (BLCA) is a prevalent malignancy of the urinary system, associated with a high recurrence rate and poor prognosis. FAM111B, which encodes a protein containing a trypsin-like cysteine/serine peptidase domain, has been implicated in the...

  • Article
  • Open Access
3 Citations
3,687 Views
15 Pages

Characterization and Functional Study of FAM49B Reveals Its Effect on Cell Proliferation in HEK293T Cells

  • Yijian Chen,
  • Yuyan Jiang,
  • Jihui Lao,
  • Yankuan Zhou,
  • Lida Su and
  • Xiao Huang

21 February 2022

FAM49B/Fam49b is a member of the Fam49 (Family with sequence similarity 49) gene family, which is characterized by the conserved domain, DUF1394 (Domain of Unknown Function 1394). It has also been named CYRI-B (CYFIP related RAC1 interactor B), impli...

  • Article
  • Open Access
14 Citations
3,844 Views
20 Pages

26 December 2022

The family with sequence similarity 72 Member A (FAM72A) is overexpressed in several types of cancer. However, its contributions to tumorigenesis remain largely unknown. Based on The Cancer Genome Atlas (TCGA) database, FAM72A was upregulated across...

  • Article
  • Open Access
1 Citations
4,750 Views
16 Pages

23 July 2021

Neurogenesis and functional brain activity require complex associations of inherently programmed secretory elements that are regulated precisely and temporally. Family with sequence similarity 19 A1 (FAM19A1) is a secreted protein primarily expressed...

  • Article
  • Open Access
15 Citations
5,887 Views
17 Pages

Systematic Analysis of Gene Expression in Lung Adenocarcinoma and Squamous Cell Carcinoma with a Case Study of FAM83A and FAM83B

  • Ling Cai,
  • Danni Luo,
  • Bo Yao,
  • Donghan M. Yang,
  • ShinYi Lin,
  • Luc Girard,
  • Ralph J. DeBerardinis,
  • John D. Minna,
  • Yang Xie and
  • Guanghua Xiao

25 June 2019

Introduction: In our previous study, we constructed a Lung Cancer Explorer (LCE) database housing lung cancer-specific expression data and clinical data from over 6700 patients in 56 studies. Methods: Using this dataset of the largest collection of l...

  • Article
  • Open Access
10 Citations
3,472 Views
16 Pages

FAM188B Expression Is Critical for Cell Growth via FOXM1 Regulation in Lung Cancer

  • Young Eun Choi,
  • Hamadi Madhi,
  • HaEun Kim,
  • Jeon-Soo Lee,
  • Myung-Hee Kim,
  • Yong-Nyun Kim and
  • Sung-Ho Goh

Although family with sequence similarity 188 member B (FAM188B) is known to be a member of a novel putative deubiquitinase family, its biological role has not been fully elucidated. Here, we demonstrate the oncogenic function of FAM188B via regulatio...

  • Review
  • Open Access
15 Citations
5,083 Views
15 Pages

The Oncogenic Potential of the Centromeric Border Protein FAM84B of the 8q24.21 Gene Desert

  • Yan Gu,
  • Xiaozeng Lin,
  • Anil Kapoor,
  • Mathilda Jing Chow,
  • Yanzhi Jiang,
  • Kuncheng Zhao and
  • Damu Tang

15 March 2020

FAM84B is a risk gene in breast and prostate cancers. Its upregulation is associated with poor prognosis of prostate cancer, breast cancer, and esophageal squamous cell carcinoma. FAM84B facilitates cancer cell proliferation and invasion in vitro, an...

  • Article
  • Open Access
3 Citations
2,543 Views
17 Pages

Differential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets

  • Dmitri Sisario,
  • Markus Spindler,
  • Katharina J. Ermer,
  • Noah Grütz,
  • Leo Nicolai,
  • Florian Gaertner,
  • Laura M. Machesky and
  • Markus Bender

6 February 2024

Platelet function at vascular injury sites is tightly regulated through the actin cytoskeleton. The Wiskott–Aldrich syndrome protein-family verprolin-homologous protein (WAVE)-regulatory complex (WRC) activates lamellipodia formation via ARP2/3...

  • Article
  • Open Access
6 Citations
5,369 Views
20 Pages

KinFams: De-Novo Classification of Protein Kinases Using CATH Functional Units

  • Tolulope Adeyelu,
  • Nicola Bordin,
  • Vaishali P. Waman,
  • Marta Sadlej,
  • Ian Sillitoe,
  • Aurelio A. Moya-Garcia and
  • Christine A. Orengo

2 February 2023

Protein kinases are important targets for treating human disorders, and they are the second most targeted families after G-protein coupled receptors. Several resources provide classification of kinases into evolutionary families (based on sequence ho...

  • Article
  • Open Access
1,282 Views
19 Pages

Background: Ovarian cancer (OC) is characterized by high incidence and mortality rates; however, due to its immunologically “cold” phenotype, the effectiveness of immunotherapy as a strategy for OC remains inadequate. Although the FAM111B...

  • Article
  • Open Access
3 Citations
2,865 Views
19 Pages

Loss of the Novel Mitochondrial Membrane Protein FAM210B Is Associated with Hepatocellular Carcinoma

  • Yuanqin Zhou,
  • Xianzhu Pan,
  • Yakun Liu,
  • Xiaofei Li,
  • Keqiong Lin,
  • Jicheng Zhu,
  • Li Zhan,
  • Chen Kan and
  • Hong Zheng

Hepatocellular carcinoma (HCC) is an aggressive and challenging disease to treat. Due to the lack of effective early diagnosis and therapy for the illness, it is crucial to identify novel biomarkers that can predict tumor behavior in HCC. In such cas...

  • Article
  • Open Access
2 Citations
5,110 Views
13 Pages

Deletion of the Mitochondrial Membrane Protein Fam210b Is Associated with the Development of Systemic Lupus Erythematosus

  • Yaqi Xu,
  • Ran Gao,
  • Min Zhang,
  • Qi Zeng,
  • Gaizhi Zhu,
  • Jinming Qiu,
  • Wenting Su and
  • Renxi Wang

Mitochondrial dysfunction has been increasingly recognized as a trigger for systemic lupus erythematosus (SLE). Recent bioinformatics studies have suggested Fam210b as a significant candidate for the classification and therapeutic targeting of SLE. T...

  • Review
  • Open Access
26 Citations
7,398 Views
38 Pages

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

  • Icela Palma-Lara,
  • Monserrat Pérez-Ramírez,
  • Patricia García Alonso-Themann,
  • Ana María Espinosa-García,
  • Ricardo Godinez-Aguilar,
  • José Bonilla-Delgado,
  • Adolfo López-Ornelas,
  • Georgina Victoria-Acosta,
  • María Guadalupe Olguín-García and
  • Carmen Palacios-Reyes
  • + 1 author

FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital...

  • Article
  • Open Access
19 Citations
4,381 Views
19 Pages

Hypoxia-Induced FAM13A Regulates the Proliferation and Metastasis of Non-Small Cell Lung Cancer Cells

  • Iwona Ziółkowska-Suchanek,
  • Marta Podralska,
  • Magdalena Żurawek,
  • Joanna Łaczmańska,
  • Katarzyna Iżykowska,
  • Agnieszka Dzikiewicz-Krawczyk and
  • Natalia Rozwadowska

Hypoxia in non-small cell lung cancer (NSCLC) affects cancer progression, metastasis and metabolism. We previously showed that FAM13A was induced by hypoxia in NSCLC but the biological function of this gene has not been fully elucidated. This study a...

  • Article
  • Open Access
3 Citations
1,817 Views
17 Pages

Unveiling FAM111B: A Pan-Cancer Biomarker for DNA Repair and Immune Infiltration

  • Fang Wei,
  • Wanying Li,
  • Ting Zhou,
  • Xianglin Yuan and
  • Lihong Zhang

Recent evidence indicates that FAM111B is significantly involved in the progression of various cancers. Nonetheless, the potential pan-cancer implications of FAM111B have not been systematically investigated. In this study, FAM111B’s expression...

  • Article
  • Open Access
1 Citations
2,775 Views
17 Pages

10 October 2022

Mutations in C8orf37 cause Bardet-Biedl syndrome (BBS), retinitis pigmentosa (RP), and cone–rod dystrophy (CRD), all manifest in photoreceptor degeneration. Little is known about which proteins C8orf37 interacts with to contribute to photorecep...

  • Article
  • Open Access
6 Citations
2,892 Views
17 Pages

Immunohistochemical Evaluation of Adaptor Protein FAM159B Expression in Normal and Neoplastic Human Tissues

  • Anna-Sophia Lieselott Beyer,
  • Daniel Kaemmerer,
  • Jörg Sänger,
  • Katja Evert and
  • Amelie Lupp

12 November 2021

FAM159B is a so-called adaptor protein. These proteins are essential components in numerous cell signalling pathways. However, little is known regarding FAM159B expression in normal and neoplastic human tissues. The commercially available rabbit poly...

  • Article
  • Open Access
19 Citations
3,391 Views
17 Pages

Involvement of MicroRNA-1-FAM83A Axis Dysfunction in the Growth and Motility of Lung Cancer Cells

  • Pei-Jung Liu,
  • Yu-Hsuan Chen,
  • Kuo-Wang Tsai,
  • Hui-Ying Yeah,
  • Chung-Yu Yeh,
  • Ya-Ting Tu and
  • Chih-Yun Yang

22 November 2020

Lung cancer is the most prevalent types of cancer and the leading cause of cancer-related deaths worldwide. Among all cancers, lung cancer has the highest incidence, accompanied by a high mortality rate at the advanced stage. Favorable prognostic bio...

  • Article
  • Open Access
2 Citations
1,097 Views
28 Pages

26 September 2025

Background/Objectives: FAM72B (Family with sequence similarity 72 member B) is a gene whose function is not yet fully elucidated and which belongs to the FAM72 gene family. Recent studies have indicated that it is involved in the regulation of s...

  • Communication
  • Open Access
6 Citations
3,887 Views
11 Pages

Differential Regulation of Cellular FAM111B by Human Adenovirus C Type 5 E1 Oncogenes

  • Wing-Hang Ip,
  • Britta Wilkens,
  • Anastasia Solomatina,
  • Judith Martin,
  • Michael Melling,
  • Paloma Hidalgo,
  • Luca D. Bertzbach,
  • Thomas Speiseder and
  • Thomas Dobner

28 May 2021

The adenovirus type 5 (HAdV-C5) E1 transcription unit encodes regulatory proteins that are essential for viral replication and transformation. Among these, E1A and E1B-55K act as key multifunctional HAdV-C5 proteins involved in various steps of the v...

  • Article
  • Open Access
408 Views
20 Pages

FAM64A Potentiates Bladder Carcinoma Tumorigenesis and Metastasis Through PI3K/mTORC2/AKT Pathway Activation

  • Tao Zhu,
  • Cen Liufu,
  • Cong Yin,
  • Jinqing He,
  • Junhua Luo,
  • Bentao Shi and
  • Yan Wang

6 February 2026

Background: FAM64A is highly expressed in various cancers (e.g., breast cancer, ovarian cancer), indicating that it promotes tumorigenesis and progression by facilitating epithelial–mesenchymal transition. In the genitourinary system, dihydrote...

  • Article
  • Open Access
27 Citations
5,047 Views
20 Pages

Dysregulated FAM215A Stimulates LAMP2 Expression to Confer Drug-Resistant and Malignant in Human Liver Cancer

  • Po-Shuan Huang,
  • Yang-Hsiang Lin,
  • Hsiang-Cheng Chi,
  • Yi-Hsin Tseng,
  • Cheng Yi Chen,
  • Tzu-Kang Lin,
  • Chau-Ting Yeh and
  • Kwang-Huei Lin

14 April 2020

Hepatocellular carcinoma (HCC) is one of the most common and aggressive human malignancies worldwide. Long non-coding (lnc) RNAs regulate complex cellular functions, such as cell growth, differentiation, metabolism, and metastasis. Although deregulat...

  • Article
  • Open Access
1,501 Views
11 Pages

A Fluorescence Strategy Based on Guanidinylated Carbon Dots and FAM-Labeled ssDNA for Facile Detection of Lipopolysaccharide

  • Zongfu Zheng,
  • Junrong Li,
  • Gengping Pan,
  • Jing Wang,
  • Yao Wang,
  • Kai Peng,
  • Xintian Zhang,
  • Zhengjun Huang and
  • Shaohuang Weng

The detection of lipopolysaccharide (LPS) has important value for the monitoring of diseases such as sepsis and the impurity control of drugs. In this work, we prepared guanidinylated carbon dots (GQ-CDs) and used them to adsorb 5-carboxyfluorescein...

  • Article
  • Open Access
4 Citations
2,358 Views
15 Pages

Background: FAM83H is important in teeth development; however, an increasing number of reports have indicated a role for it in human cancers. FAM83H is involved in cancer progression in association with various oncogenic molecules, including SCRIB. I...

  • Article
  • Open Access
221 Views
21 Pages

The FAM111A Gene: Genetic, Epigenetic, and Pharmacological Targets and Mechanistic Insights with Clinical Relevance

  • Kyriaki Hatziagapiou,
  • Feneli Karachaliou,
  • Trias Thireou,
  • Eleni Koniari,
  • Dimitrios Chaniotis,
  • Apostolos Beloukas,
  • Galateia Stathori,
  • Panagiota Kafkaloudi,
  • Bettina Krumbholz and
  • Louis Papageorgiou
  • + 1 author

27 February 2026

Background/Objectives: FAM111A is a trypsin-like serine protease that has emerged as a regulator of DNA replication, and is directly related to genome stability, protein homeostasis, antiviral defense and cancer progression. Pathogenic variants...

  • Article
  • Open Access
11 Citations
3,137 Views
17 Pages

GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on Bioinformatics and Immunohistochemical Analysis

  • Yue Xi,
  • Tiange Zhang,
  • Wei Sun,
  • Ruobing Liang,
  • Sridha Ganesh and
  • Honglei Chen

6 December 2022

Head and neck squamous cell carcinoma (HNSCC) is one of the most common cancers worldwide. We aimed to identify potential genetic markers that could predict the prognosis of HNSCC. A total of 44 samples of GSE83519 from Gene Expression Omnibus (GEO)...

  • Article
  • Open Access
3 Citations
3,618 Views
31 Pages

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis

  • Icela Palma-Lara,
  • Patricia García Alonso-Themann,
  • Javier Pérez-Durán,
  • Ricardo Godínez-Aguilar,
  • José Bonilla-Delgado,
  • Damián Gómez-Archila,
  • Ana María Espinosa-García,
  • Manuel Nolasco-Quiroga,
  • Georgina Victoria-Acosta and
  • Carmen Palacios-Reyes
  • + 3 authors

FAM20C (family with sequence similarity 20, member C) is a serine/threonine-specific protein kinase that is ubiquitously expressed and mainly associated with biomineralization and phosphatemia regulation. It is mostly known due to pathogenic variants...

  • Article
  • Open Access
11 Citations
4,182 Views
11 Pages

The Molecular Characteristics of the FAM13A Gene and the Role of Transcription Factors ACSL1 and ASCL2 in Its Core Promoter Region

  • Chengcheng Liang,
  • Anning Li,
  • Sayed Haidar Abbas Raza,
  • Rajwali Khan,
  • Xiaoyu Wang,
  • Sihu Wang,
  • Guohua Wang,
  • Yu Zhang and
  • Linsen Zan

28 November 2019

The gene family with sequence similarity 13 member A (FAM13A) has recently been identified as a marker gene in insulin sensitivity and lipolysis. In this study, we first analyzed the expression patterns of this gene in different tissues of adult catt...

  • Article
  • Open Access
2,086 Views
15 Pages

FAM83H Expression Is Associated with Tumor-Infiltrating PD1-Positive Lymphocytes and Predicts the Survival of Breast Carcinoma Patients

  • Ji Eun Choi,
  • Ae Ri Ahn,
  • Junyue Zhang,
  • Kyoung Min Kim,
  • Ho Sung Park,
  • Ho Lee,
  • Myoung Ja Chung,
  • Woo Sung Moon and
  • Kyu Yun Jang

15 September 2023

Background: FAM83H has been implicated in cancer progression, and PD1 is an important target for anti-cancer immune checkpoint therapy. Recent studies suggest an association between FAM83H expression and immune infiltration. However, studies on the r...

  • Article
  • Open Access
20 Citations
3,394 Views
20 Pages

13 August 2022

Prostate cancer (PCa) is one of the most common cancers and is the second leading cause of mortality in men. Studies exploring novel therapeutic methods are urgently needed. FAM107A, a coding gene located in the short arm of chromosome3, is generally...

  • Article
  • Open Access
2 Citations
2,938 Views
20 Pages

4 November 2022

Little is known about the adaptor protein FAM159B. Recently, FAM159B was shown to be particularly expressed in neuroendocrine cells and tissues, such as pancreatic islets and neuroendocrine cells of the bronchopulmonary and gastrointestinal tracts, a...

  • Article
  • Open Access
1 Citations
1,071 Views
21 Pages

14 May 2025

Heparan sulfate (HS) and chondroitin sulfate (CS) proteoglycans (PGs) are essential regulators of many biological processes including cell differentiation, signalization, and proliferation. PGs interact mainly via their glycosaminoglycan (GAG) chains...

  • Article
  • Open Access
5 Citations
2,991 Views
15 Pages

FAM57A (Family with Sequence Similarity 57 Member A) Is a Cell-Density-Regulated Protein and Promotes the Proliferation and Migration of Cervical Cancer Cells

  • Dongyun Yang,
  • Tobias D. Strobel,
  • Julia Bulkescher,
  • Claudia Tessmer,
  • Ilse Hofmann,
  • Felix Hoppe-Seyler and
  • Karin Hoppe-Seyler

21 October 2022

The FAM57A (family with sequence similarity 57 member A) gene is controversially discussed to possess pro- or anti-tumorigenic potential. Here, we analyze the regulation of cellular FAM57A protein levels and study the functional role of FAM57A in HPV...

  • Feature Paper
  • Article
  • Open Access
30 Citations
5,288 Views
15 Pages

1 July 2022

This paper presents the investigations of selected properties of concrete containing two fractions of fly ash microspheres (FAMs) with grain size up to 200 µm and up to 500 µm. Concrete mixtures with ordinary Portland cement and three substitution ra...

  • Article
  • Open Access
22 Citations
3,748 Views
15 Pages

FAM188B Downregulation Sensitizes Lung Cancer Cells to Anoikis via EGFR Downregulation and Inhibits Tumor Metastasis In Vivo

  • Eun-Ju Jang,
  • Jee Young Sung,
  • Ha-Eun Yoo,
  • Hyonchol Jang,
  • Jaegal Shim,
  • Eok-Soo Oh,
  • Sung-Ho Goh and
  • Yong-Nyun Kim

11 January 2021

Anoikis is a type of apoptosis induced by cell detachment from the extracellular matrix (ECM), which removes mislocalized cells. Acquisition of anoikis resistance is critical for cancer cells to survive during circulation and, thus, metastasize at a...

  • Article
  • Open Access
3,124 Views
14 Pages

The Influence of FAM13A and PPAR-γ2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women

  • Bogna Grygiel-Górniak,
  • Iwona Ziółkowska-Suchanek,
  • Lidia Szymkowiak,
  • Natalia Rozwadowska and
  • Elżbieta Kaczmarek

14 April 2023

Recently, we have observed two significant pandemics caused by communicable (COVID-19) and non-communicable factors (obesity). Obesity is related to a specific genetic background and characterized by immunogenetic features, such as low-grade systemic...

  • Article
  • Open Access
1,109 Views
26 Pages

18 November 2025

The FAM171A2 gene encodes a transmembrane protein that is not well characterized but is implicated in signaling, vesicle trafficking, and interactions with the extracellular matrix. Its specific role in gynecologic malignancies has yet to be defined....

  • Article
  • Open Access
1,685 Views
20 Pages

Piezo1 Regulates Odontogenesis via a FAM83G-Mediated Mechanism in Dental Papilla Cells In Vitro and In Vivo

  • Xinyue Sheng,
  • Jingzhou Li,
  • Haozhen Ma,
  • Hongwen He,
  • Qin Liu,
  • Shilin Jia,
  • Fuping Zhang and
  • Fang Huang

20 February 2025

This study explored the role of Piezo1 in the odontogenic differentiation of dental papilla cells (DPCs) and tissue, focusing on a mechanism involving family with sequence similarity 83, member G (FAM83G). Here, we found Piezo1, a mechanosensitive ca...

  • Case Report
  • Open Access
13 Citations
8,783 Views
14 Pages

Two Novel FAM20C Variants in a Family with Raine Syndrome

  • Araceli Hernández-Zavala,
  • Fernando Cortés-Camacho,
  • Icela Palma-Lara,
  • Ricardo Godínez-Aguilar,
  • Ana María Espinosa,
  • Javier Pérez-Durán,
  • Patricia Villanueva-Ocampo,
  • Carlos Ugarte-Briones,
  • Carlos Alberto Serrano-Bello and
  • Carmen Palacios-Reyes
  • + 7 authors

20 February 2020

Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in...

  • Article
  • Open Access
3 Citations
2,853 Views
15 Pages

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

  • Sandy Siegert,
  • Gabriel T. Mindler,
  • Christof Brücke,
  • Andreas Kranzl,
  • Janina Patsch,
  • Markus Ritter,
  • Andreas R. Janecke and
  • Julia Vodopiutz

20 October 2021

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozyg...

  • Article
  • Open Access
4 Citations
2,773 Views
16 Pages

Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate

  • Xiaoyan Chen,
  • Nan Li,
  • Ping Hu,
  • Leilei Li,
  • Danya Li,
  • Han Liu,
  • Lei Zhu,
  • Jing Xiao and
  • Chao Liu

Cleft palate is one of the most common birth defects. Previous studies revealed that multiple factors, including impaired intracellular or intercellular signals, and incoordination of oral organs led to cleft palate, but were little concerned about t...

  • Article
  • Open Access
1,334 Views
17 Pages

Circ_0011446 Regulates Intramuscular Adipocyte Differentiation in Goats via the miR-27a-5p/FAM49B Axis

  • Jian-Mei Wang,
  • Jin-Shi Lv,
  • Ke-Han Liu,
  • Yan-Yan Li,
  • Jiang-Jiang Zhu,
  • Yan Xiong,
  • Yong Wang and
  • Ya-Qiu Lin

Intramuscular fat (IMF), or marbling, is a critical indicator of goat meat quality. Non-coding RNAs play a key role in the formation and deposition of IMF in vertebrates by regulating genes involved in its synthesis, degradation, and transport. The c...

  • Article
  • Open Access
3 Citations
3,636 Views
15 Pages

FAM111A Is a Novel Molecular Marker for Oocyte Aging

  • Huixia Yang,
  • Thomas Kolben,
  • Mirjana Kessler,
  • Sarah Meister,
  • Corinna Paul,
  • Julia van Dorp,
  • Sibel Eren,
  • Christina Kuhn,
  • Martina Rahmeh and
  • Viktoria von Schönfeldt
  • + 5 authors

Aging is the main cause of decline in oocyte quality, which can further trigger the failure of assisted reproductive technology (ART). Exploring age-related genes in oocytes is an important way to investigate the molecular mechanisms involved in oocy...

  • Article
  • Open Access
2 Citations
1,194 Views
17 Pages

FAM20B-Catalyzed Glycosylation Regulates the Chondrogenic and Osteogenic Differentiation of the Embryonic Condyle by Controlling IHH Diffusion and Release

  • Xiaoyan Chen,
  • Han Liu,
  • Yuhong Huang,
  • Leilei Li,
  • Xuxi Jiang,
  • Bo Liu,
  • Nan Li,
  • Lei Zhu,
  • Chao Liu and
  • Jing Xiao

Although the roles of proteoglycans (PGs) have been well documented in the development and homeostasis of the temporomandibular joint (TMJ), how the glycosaminoglycan (GAG) chains of PGs contribute to TMJ chondrogenesis and osteogenesis still require...

  • Communication
  • Open Access
4 Citations
2,567 Views
6 Pages

A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

  • Camila Alvarez,
  • María Andrea Aragón,
  • Yejin Lee,
  • Sandra Gutiérrez,
  • Patricia Méndez,
  • Dabeiba Adriana García,
  • Liliana Otero and
  • Jung-Wook Kim

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomat...

  • Article
  • Open Access
2 Citations
1,541 Views
20 Pages

Evaluating the Predictive Performance of miR-124-2 and FAM19A4 for Cervical Lesions in a Single Center from Romania: A Prospective Study

  • Ioana-Sadiye Scripcariu,
  • Tudor Gisca,
  • Anca Botezatu,
  • Demetra Socolov,
  • Ingrid-Andrada Vasilache,
  • Carmen Diaconu and
  • Alina Fudulu

15 May 2025

Background/Objectives: Molecular triage strategies for cervical lesions based on miR-124-2 and FAM19A4 are poorly studied in various populations. The aim of this prospective study was to evaluate the individual and combined predictive performance of...

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