A novel deletion mutation in the<i>LPAR6</i>gene underlies autosomal recessive woolly hair with hypotrichosis

Liu, L. H.; Chen, G.; Wang, J. W.; Liu, S. X.; Wang, J. B.; Zhou, Fu Sheng; Zhu, Jie; Sun, Liangdan; Gao, Min; Wang, P. G.; Yang, Sen; Zhang, X. J.

doi:10.1111/ced.12129

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…Based on the results of RT-PCR experiment, only the p.Tyr252*-mutant LPA 6 was expected to be expressed stably in the patient's HFs. Previously, 24 distinct disease-causing mutations have been identified in the LPAR6 gene [8,9,[27][28][29][30][31][32][33][34][35][36][37]. However, expression and functional analyses for these mutations have rarely been performed.…”

Section: Discussionmentioning

confidence: 99%

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Inoue

Suga

Aoki

et al. 2015

Journal of Dermatological Science

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Section: Discussionmentioning

confidence: 99%

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Inoue

Suga

Aoki

et al. 2015

Journal of Dermatological Science

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“…LPAR6 mutations in ARWH families have been reported in Arab Muslim, 2 Pakistani, 3,46 Brazilian, 47 Indian, 48 Turkish, 48 Iranian, 49 Syrian, 50 Chinese 51 and Japanese populations 52 . However, a large number of ARWH families with LPAR6 mutations have been described only in the Pakistani population (Table 5).…”

Section: Genetics Of Isolated Arwhmentioning

confidence: 99%

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies

Akiyama

2021

Acad Dermatol Venereol

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Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare hereditary hair disease characterized by tightly curled sparse hair at birth or in early infancy. Patients with ARWH consist of genetically heterogeneous groups. Woolly hair autosomal recessive 1 (ARWH1) (MIM #278150), woolly hair autosomal recessive 2 (ARWH2) (MIM #604379) and woolly hair autosomal recessive 3 (ARWH3) (MIM #616760) are caused by mutations in LPAR6, LIPH and KRT25, respectively. In addition, nonsense variants in C3ORF52 (*611956) were identified in ARWH patients. The frequencies of the mutations in the causative genes in ARWH patients are thought to differ by ethnicity and country/geographical area.Large numbers of ARWH families with LIPH mutations have been described only in populations from Japan, Pakistan and the Volga-Ural region of Russia. In that region of Russia, most ARWH families have an extremely prevalent founder mutation, the deletion of exon 4, in LIPH. In the Pakistani population, 47.2% of ARWH families had the disease due to LIPH mutations and 52.8% of them carried LPAR6 mutations. The prevalent, recurrent LIPH mutation c.659_660delTA (p.Ile220Argfs*29) was found in more than half of Pakistani ARWH families with LIPH mutations. Most Japanese ARWH families (98.7%) harbour LIPH mutations, including the two highly prevalent, recurrent LIPH mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn). In ARWH patients whose disease was due to LIPH, LPAR6 or C3ORF52 mutations, the loss of function of LIPH, LPAR6 or C3ORF52 leads to reduced LIPH-LPA-LPAR6 signalling, resulting in the decreased transactivation of EGFR signalling and the phenotype of underdeveloped hairs. Our recent prospective interventional study suggests that topical minoxidil might be a promising treatment for ARWH due to LIPH mutations, although sufficiently effective treatments have not been established for ARWH yet.

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Role of lysophosphatidic acid and its receptors in the kidney

Park

Miller

2017

Physiological Genomics

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Lysophosphatidic acid (LPA) is a bioactive phospholipid that can exert diverse biological effects in various diseased states of the kidney by activating at least six cognate G protein-coupled receptors and its complex network of heterotrimeric G proteins. In many models of acute and chronic kidney injury, pathological elevations in LPA promotes abnormal changes in renal tubular epithelial cell architecture by activating apoptotic signaling, recruits immune cells to the site of injury, and stimulates profibrotic signaling by increasing gene transcription. In renal cancers, LPA can promote vascular cell proliferation and tumor cell invasion. In this review, a summary will be provided to describe the involvement of LPA, its synthetic enzymes, and its associated receptors in normal and diseased kidneys. Further elucidation of the LPA system may open new doors in developing a lipid-receptor therapeutic platform for kidney diseases.

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A novel deletion mutation in theLPAR6gene underlies autosomal recessive woolly hair with hypotrichosis

Cited by 4 publications

References 5 publications

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies

Role of lysophosphatidic acid and its receptors in the kidney

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