Shimomura Y

Title : Molecular Basis of Hereditary Hair Diseases - Shimomura_2023_Keio.J.Med__

Author(s) : Shimomura Y

Ref : Keio J Med , : , 2023

Abstract :

PubMedSearch : Shimomura_2023_Keio.J.Med__

Title : Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair -

Author(s) : Asano N , Okita T , Yasuno S , Yamaguchi M , Kashiwagi K , Kanekura T , Shimomura Y

Ref : J Dermatol , 46 :e19 , 2019

PubMedID: 29974973

Gene_locus related to this paper: human-LIPH

Title : Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis: Case report and published work review - Mizukami_2018_J.Dermatol_45_613

Author(s) : Mizukami Y , Hayashi R , Tsuruta D , Shimomura Y , Sugawara K

Ref : J Dermatol , 45 :613 , 2018

Abstract :

PubMedSearch : Mizukami_2018_J.Dermatol_45_613

PubMedID: 29464811

Gene_locus related to this paper: human-LIPH

Title : The role of plasma lipoprotein lipase, hepatic lipase and GPIHBP1 in the metabolism of remnant lipoproteins and small dense LDL in patients with coronary artery disease - Muraba_2017_Clin.Chim.Acta_476_146

Author(s) : Muraba Y , Koga T , Shimomura Y , Ito Y , Hirao Y , Kobayashi J , Kimura T , Nakajima K , Murakami M

Ref : Clinica Chimica Acta , 476 :146 , 2017

Abstract :

PubMedSearch : Muraba_2017_Clin.Chim.Acta_476_146

PubMedID: 29174344

Gene_locus related to this paper: human-LIPC , human-LPL

Title : Corneal Nerve Fiber Structure, Its Role in Corneal Function, and Its Changes in Corneal Diseases - Eguchi_2017_Biomed.Res.Int_2017_3242649

Author(s) : Eguchi H , Hiura A , Nakagawa H , Kusaka S , Shimomura Y

Ref : Biomed Res Int , 2017 :3242649 , 2017

Abstract :

PubMedSearch : Eguchi_2017_Biomed.Res.Int_2017_3242649

PubMedID: 29238714

Title : Case of autosomal recessive woolly hair\/hypotrichosis with atopic dermatitis -

Author(s) : Itoh E , Nakahara T , Furumura M , Furue M , Shimomura Y

Ref : J Dermatol , 44 :1185 , 2017

PubMedID: 27774676

Gene_locus related to this paper: human-LIPH

Title : Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair -

Author(s) : Matsuo Y , Tanaka A , Shimomura Y , Hide M

Ref : J Dermatol , 43 :1384 , 2016

PubMedID: 27094727

Gene_locus related to this paper: human-LIPH

Title : 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 - Hayashi_2015_J.Dermatol.Sci_78_197

Author(s) : Hayashi R , Inoue A , Suga Y , Aoki J , Shimomura Y

Ref : J Dermatol Sci , 78 :197 , 2015

Abstract :

PubMedSearch : Hayashi_2015_J.Dermatol.Sci_78_197

PubMedID: 25828854

Title : Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair\/hypotrichosis -

Author(s) : Ito T , Shimomura Y , Hayashi R , Tokura Y

Ref : J Dermatol , 42 :752 , 2015

PubMedID: 25899282

Gene_locus related to this paper: human-LIPH

Title : Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family -

Author(s) : Hayashi R , Akasaka T , Ito M , Shimomura Y

Ref : J Dermatol , 41 :937 , 2014

PubMedID: 25201209

Title : Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair - Hayashi_2014_J.Dermatol_41_890

Author(s) : Hayashi R , Inui S , Farooq M , Ito M , Shimomura Y

Ref : J Dermatol , 41 :890 , 2014

Abstract :

PubMedSearch : Hayashi_2014_J.Dermatol_41_890

PubMedID: 25271093

Gene_locus related to this paper: human-LIPH

Title : A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair\/hypotrichosis -

Author(s) : Yoshizawa M , Nakamura M , Farooq M , Inoue A , Aoki J , Shimomura Y

Ref : J Dermatol Sci , 72 :61 , 2013

PubMedID: 23768866

Gene_locus related to this paper: human-LIPH

Title : Mutations in LPAR6\/P2RY5 and LIPH are associated with woolly hair and\/or hypotrichosis - Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545

Author(s) : Kurban M , Wajid M , Shimomura Y , Christiano AM

Ref : J Eur Acad Dermatol Venereol , 27 :545 , 2013

Abstract :

PubMedSearch : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545

PubMedID: 22385360

Gene_locus related to this paper: human-LIPH

Title : Complete genome sequence of Bradyrhizobium sp. S23321: insights into symbiosis evolution in soil oligotrophs - Okubo_2012_Microbes.Environ_27_306

Author(s) : Okubo T , Tsukui T , Maita H , Okamoto S , Oshima K , Fujisawa T , Saito A , Futamata H , Hattori R , Shimomura Y , Haruta S , Morimoto S , Wang Y , Sakai Y , Hattori M , Aizawa S , Nagashima KV , Masuda S , Hattori T , Yamashita A , Bao Z , Hayatsu M , Kajiya-Kanegae H , Yoshinaga I , Sakamoto K , Toyota K , Nakao M , Kohara M , Anda M , Niwa R , Jung-Hwan P , Sameshima-Saito R , Tokuda S , Yamamoto S , Yokoyama T , Akutsu T , Nakamura Y , Nakahira-Yanaka Y , Takada Hoshino Y , Hirakawa H , Mitsui H , Terasawa K , Itakura M , Sato S , Ikeda-Ohtsubo W , Sakakura N , Kaminuma E , Minamisawa K

Ref : Microbes Environ , 27 :306 , 2012

Abstract :

PubMedSearch : Okubo_2012_Microbes.Environ_27_306

PubMedID: 22452844

Gene_locus related to this paper: 9brad-i0g2u8 , 9brad-i0gf89 , braja-pcaD , 9brad-i0fzh8 , 9brad-i0gfv2 , 9brad-i0g2y4

Title : Congenital hair loss disorders: rare, but not too rare - Shimomura_2012_J.Dermatol_39_3

Author(s) : Shimomura Y

Ref : J Dermatol , 39 :3 , 2012

Abstract :

PubMedSearch : Shimomura_2012_J.Dermatol_39_3

PubMedID: 22044263

Title : Complete genome sequencing and analysis of a Lancefield group G Streptococcus dysgalactiae subsp. equisimilis strain causing streptococcal toxic shock syndrome (STSS) - Shimomura_2011_BMC.Genomics_12_17

Author(s) : Shimomura Y , Okumura K , Murayama SY , Yagi J , Ubukata K , Kirikae T , Miyoshi-Akiyama T

Ref : BMC Genomics , 12 :17 , 2011

Abstract :

PubMedSearch : Shimomura_2011_BMC.Genomics_12_17

PubMedID: 21223537

Gene_locus related to this paper: strpy-SPYM18.1727

Title : The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair\/hypotrichosis - Petukhova_2009_Hum.Hered_68_117

Author(s) : Petukhova L , Shimomura Y , Wajid M , Gorroochurn P , Hodge SE , Christiano AM

Ref : Hum Hered , 68 :117 , 2009

Abstract :

PubMedSearch : Petukhova_2009_Hum.Hered_68_117

PubMedID: 19365138

Gene_locus related to this paper: human-LIPH

Title : Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair\/hypotrichosis -

Author(s) : Shimomura Y , Ito M , Christiano AM

Ref : J Dermatol Sci , 56 :205 , 2009

PubMedID: 19892526

Gene_locus related to this paper: human-LIPH

Title : Founder mutations in the lipase h gene in families with autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_1927

Author(s) : Shimomura Y , Wajid M , Zlotogorski A , Lee YJ , Rice RH , Christiano AM

Ref : Journal of Investigative Dermatology , 129 :1927 , 2009

Abstract :

PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_1927

PubMedID: 19262606

Gene_locus related to this paper: human-LIPH

Title : Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622

Author(s) : Shimomura Y , Wajid M , Petukhova L , Shapiro L , Christiano AM

Ref : Journal of Investigative Dermatology , 129 :622 , 2009

Abstract :

PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_622

PubMedID: 18830268

Gene_locus related to this paper: human-LIPH

Title : Possible involvement of crosstalk cell-adhesion mechanism by endometrial CD26\/dipeptidyl peptidase IV and embryonal fibronectin in human blastocyst implantation - Shimomura_2006_Mol.Hum.Reprod_12_491

Author(s) : Shimomura Y , Ando H , Furugori K , Kajiyama H , Suzuki M , Iwase A , Mizutani S , Kikkawa F

Ref : Mol Hum Reprod , 12 :491 , 2006

Abstract :

PubMedSearch : Shimomura_2006_Mol.Hum.Reprod_12_491

PubMedID: 16621928

Shimomura Y

References (21)

1. Molecular Basis of Hereditary Hair Diseases - Shimomura_2023_Keio.J.Med__

2. Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair -

3. Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis: Case report and published work review - Mizukami_2018_J.Dermatol_45_613

4. The role of plasma lipoprotein lipase, hepatic lipase and GPIHBP1 in the metabolism of remnant lipoproteins and small dense LDL in patients with coronary artery disease - Muraba_2017_Clin.Chim.Acta_476_146

5. Corneal Nerve Fiber Structure, Its Role in Corneal Function, and Its Changes in Corneal Diseases - Eguchi_2017_Biomed.Res.Int_2017_3242649

6. Case of autosomal recessive woolly hair\/hypotrichosis with atopic dermatitis -

7. Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair -

8. 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 - Hayashi_2015_J.Dermatol.Sci_78_197

9. Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair\/hypotrichosis -

10. Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family -

11. Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair - Hayashi_2014_J.Dermatol_41_890

12. A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair\/hypotrichosis -

13. Mutations in LPAR6\/P2RY5 and LIPH are associated with woolly hair and\/or hypotrichosis - Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545

14. Complete genome sequence of Bradyrhizobium sp. S23321: insights into symbiosis evolution in soil oligotrophs - Okubo_2012_Microbes.Environ_27_306

15. Congenital hair loss disorders: rare, but not too rare - Shimomura_2012_J.Dermatol_39_3

16. Complete genome sequencing and analysis of a Lancefield group G Streptococcus dysgalactiae subsp. equisimilis strain causing streptococcal toxic shock syndrome (STSS) - Shimomura_2011_BMC.Genomics_12_17

17. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair\/hypotrichosis - Petukhova_2009_Hum.Hered_68_117

18. Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair\/hypotrichosis -

19. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_1927

20. Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622

21. Possible involvement of crosstalk cell-adhesion mechanism by endometrial CD26\/dipeptidyl peptidase IV and embryonal fibronectin in human blastocyst implantation - Shimomura_2006_Mol.Hum.Reprod_12_491