A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

Pillar, Nir; Pleniceanu, Oren; Fang, Mingyan; Ziv, Limor; Lahav, Einat; Botchan, Shay; Cheng, Lei; Dekel, Benjamin; Shomron, Noam

doi:10.1007/s00439-017-1804-9

Cited by 16 publications

(8 citation statements)

References 42 publications

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“…FHL1 expression is high in striated muscles and has been suggested to play an important role in skeletal muscle growth and remodeling ( Cowling et al, 2008 ). Moreover, this protein was recently revealed as a novel regulator of calcium homeostasis ( Pillar et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Beef tenderness and intramuscular fat proteomic biomarkers: muscle type effect

Picard

Gagaoua

Al-Jammas

et al. 2018

PeerJ

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Tenderness and intramuscular fat content are key attributes for beef sensory qualities. Recently some proteomic analysis revealed several proteins which are considered as good biomarkers of these quality traits. This study focuses on the analysis of 20 of these proteins representative of several biological functions: muscle structure and ultrastructure, muscle energetic metabolism, cellular stress and apoptosis. The relative abundance of the proteins was measured by Reverse Phase Protein Array (RPPA) in five muscles known to have different tenderness and intramuscular lipid contents: Longissimus thoracis (LT), Semimembranosus (SM), Rectus abdominis (RA), Triceps brachii (TB) and Semitendinosus (ST). The main results showed a muscle type effect on 16 among the 20 analyzed proteins. They revealed differences in protein abundance depending on the contractile and metabolic properties of the muscles. The RA muscle was the most different by 11 proteins differentially abundant comparatively to the four other muscles. Among these 11 proteins, six were less abundant namely enolase 3 (ENO3), phosphoglucomutase 1 (PGK1), aldolase (ALDOA), myosin heavy chain IIX (MyHC-IIX), fast myosin light chain 1 (MLC1F), triosephosphate isomerase 1 (TPI1) and five more abundant: Heat shock protein (HSP27, HSP70-1A1, αB-crystallin (CRYAB), troponin T slow (TNNT1), and aldolase dehydrogenase 1 (ALDH1A1). Four proteins: HSP40, four and a half LIM domains protein 1 (FHL1), glycogen phosphorylase B (PYGB) and malate dehydrogenase (MDH1) showed the same abundance whatever the muscle. The correlations observed between the 20 proteins in all the five muscles were used to construct a correlation network. The proteins the most connected with the others were in the following order MyHC-IIX, CRYAB, TPI1, PGK1, ALDH1A1, HSP27 and TNNT1. This knowledge is important for understanding the biological functions related to beef tenderness and intramuscular fat content.

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Section: Discussionmentioning

confidence: 99%

Beef tenderness and intramuscular fat proteomic biomarkers: muscle type effect

Picard

Gagaoua

Al-Jammas

et al. 2018

PeerJ

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“…Its use has dramatically increased research efficiency and has also significantly reduced the cost of research and the computation burden as well as save computer storage. Therefore, WES has been widely used for the causative gene identification of various types of inherited diseases (20)(21)(22)(23)(24)(25)(26)(27)(28)(29). Several capture kits ( Figure 2) have been designed to capture all human exons, ranging from approximately 34 Mb to 71 Mb in covered region size.…”

Section: Next Generation Sequencing Technologymentioning

confidence: 99%

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

et al. 2019

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Primary immunodeficiency diseases (PIDs) are composed by a group of highly heterogeneous immune system diseases, of which approximately 350 forms of PID have been described so far. The causative gene of around 60% of patients with PIDs has yet unknown. In recent years, Next Generation Sequencing (NGS) has been increasingly adopted for gene identification and molecular diagnosis of rare diseases, including PIDs. An overview of the genetic makeup that underlies PID using NGS has been suggested as a promising approach to elucidate the etiology of PIDs, which could yield diagnostic and, possibly, provide new treatment advances for PID.To approach this goal, we performed either whole exome sequencing (WES, 454 samples) or targeted region sequencing (TRS, 217 samples) on 602 samples of 500 PID pedigrees. We have summarized the practical suggestions for the interpretation of NGS data and the techniques that can be used to search disease-causative PID genes in Paper I. This work aims to improve data annotation, interpretation, and application of NGS data in PIDs, which also facilitates a wide range of application of NGS data analysis in other Mendelian disorders.

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“…In addition, FHL1 regulates calcium homeostasis (Pillar et al, 2017). We suggest that FHL1 plays a complex, multifaceted role in both odontogenesis and osteogenesis.…”

Section: Discussionmentioning

confidence: 95%

Comparative Secretome Analysis of Mesenchymal Stem Cells From Dental Apical Papilla and Bone Marrow During Early Odonto/Osteogenic Differentiation: Potential Role of Transforming Growth Factor-β2

Zhao

et al. 2020

Front. Physiol.

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To understand the functions of secretory proteins in odontogenesis and to further the understanding of the different molecular events during odontogenesis and osteogenesis, we induced the odonto/osteogenic differentiation of stem cells from dental apical papilla (SCAPs) and bone marrow-derived stem cells (BMSCs) in vitro and compared the expression of secretory proteins during early odonto/osteogenic differentiation using high-performance liquid chromatography with tandem mass spectrometry. The results revealed significant changes by at least 50% in 139 SCAP proteins and 203 BMSC proteins during differentiation. Of these, 92 were significantly upregulated and 47 were significantly downregulated during the differentiation of SCAPs. Most of these proteins showed the same trend during the differentiation of BMSCs. Among the proteins that showed significantly changes during the differentiation of SCAPs and BMSCs, we found that transforming growth factor-β2 (TGFβ2) is a key protein in the network with powerful mediation ability. TGFβ2 was secreted more by SCAPs than BMSCs, was significantly upregulated during the differentiation of SCAPs and was significantly downregulated during the differentiation of BMSCs. Furthermore, the effects of recombinant human TGFβ2 and TGFβ1 on the odonto/osteogenic differentiation of SCAPs and BMSCs were investigated. Real-time reverse transcription polymerase chain reaction (RT-PCR) and western blotting data revealed that TGFβ2 enhanced the odontogenic-related markers [dentin sialophosphoprotein (DSPP), dentin matrix protein 1 (DMP1)] and inhibited the osteogenic-related marker bone sialoprotein (BSP) in SCAPs, whereas TGFβ1 enhanced the BSP expression and inhibited the DSPP and DMP1 expression at early odonto/osteogenic differentiation of SCAPs. However, in BMSCs, TGFβ2 enhanced the expression of alkaline phosphatase (ALP), runt-related

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A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

Cited by 16 publications

References 42 publications

Beef tenderness and intramuscular fat proteomic biomarkers: muscle type effect

Beef tenderness and intramuscular fat proteomic biomarkers: muscle type effect

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

Comparative Secretome Analysis of Mesenchymal Stem Cells From Dental Apical Papilla and Bone Marrow During Early Odonto/Osteogenic Differentiation: Potential Role of Transforming Growth Factor-β2

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