Report for Shimomura Y

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

Author(s) : Shimomura Y

Ref : Keio J Med , : , 2023

Abstract : Shimomura_2023_Keio.J.Med__

ESTHER : Shimomura_2023_Keio.J.Med__

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 : Mizukami_2018_J.Dermatol_45_613

ESTHER : Mizukami_2018_J.Dermatol_45_613

PubMedSearch : Mizukami_2018_J.Dermatol_45_613

PubMedID: 29464811

Gene_locus related to this paper: human-LIPH

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 : 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 : Muraba_2017_Clin.Chim.Acta_476_146

ESTHER : Muraba_2017_Clin.Chim.Acta_476_146

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 : Eguchi_2017_Biomed.Res.Int_2017_3242649

ESTHER : Eguchi_2017_Biomed.Res.Int_2017_3242649

PubMedSearch : Eguchi_2017_Biomed.Res.Int_2017_3242649

PubMedID: 29238714

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 : 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 : 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 : Hayashi_2015_J.Dermatol.Sci_78_197

ESTHER : Hayashi_2015_J.Dermatol.Sci_78_197

PubMedSearch : Hayashi_2015_J.Dermatol.Sci_78_197

PubMedID: 25828854

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 : Hayashi_2014_J.Dermatol_41_890

ESTHER : Hayashi_2014_J.Dermatol_41_890

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 : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545

ESTHER : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545

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 : Okubo_2012_Microbes.Environ_27_306

ESTHER : Okubo_2012_Microbes.Environ_27_306

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 : Shimomura_2012_J.Dermatol_39_3

ESTHER : Shimomura_2012_J.Dermatol_39_3

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 : Shimomura_2011_BMC.Genomics_12_17

ESTHER : Shimomura_2011_BMC.Genomics_12_17

PubMedSearch : Shimomura_2011_BMC.Genomics_12_17

PubMedID: 21223537

Gene_locus related to this paper: strpy-SPYM18.1727

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 : 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 : Petukhova_2009_Hum.Hered_68_117

ESTHER : Petukhova_2009_Hum.Hered_68_117

PubMedSearch : Petukhova_2009_Hum.Hered_68_117

PubMedID: 19365138

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 : Shimomura_2009_J.Invest.Dermatol_129_1927

ESTHER : Shimomura_2009_J.Invest.Dermatol_129_1927

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 : Shimomura_2009_J.Invest.Dermatol_129_622

ESTHER : Shimomura_2009_J.Invest.Dermatol_129_622

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 : Shimomura_2006_Mol.Hum.Reprod_12_491

ESTHER : Shimomura_2006_Mol.Hum.Reprod_12_491

PubMedSearch : Shimomura_2006_Mol.Hum.Reprod_12_491

PubMedID: 16621928

Report for Shimomura Y

General

References (21)

Report for Shimomura Y

General

References (21)

1. Molecular Basis of Hereditary Hair Diseases

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

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

5. 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

6. Corneal Nerve Fiber Structure, Its Role in Corneal Function, and Its Changes in Corneal Diseases

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

8. 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

9. 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

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

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

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

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

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

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

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

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

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

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