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1

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Richard A. Spritz, Jangsuk Oh, Kazuyoshi Fukai, Stuart A. Holmes, Lingling Ho, David Chitayat, Thomas D. France, Maria A. Musarella, Seth J. Orlow, Rhonda E. Schnur, Richard G. Weleber, Alex V. Levin

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

2

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene

Okamura, Ken, Abe, Yuko, Fukai, Kazuyoshi, Tsuruta, Daisuke, Suga, Yasushi, Nakamura, Motonobu, Funasaka, Yoko, Oka, Masahiro, Suzuki, Noriyuki, Wataya-Kaneda, Mari, Seishima, Mariko, Hozumi, Yutaka,

Journal:

Journal of Dermatological Science

Year:

2015

Language:

english

File:

PDF, 422 KB

english, 2015

3

Duplication of 15q11.2–q14, including the P gene, in a woman with generalized skin hyperpigmentation

Keiko Akahoshi, Kazuyoshi Fukai, Atsushi Kato, Satoshi Kimiya, Takeo Kubota, Richard A. Spritz

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 218 KB

english, 2001

4

Guidelines for the diagnosis and treatment of vitiligo in Japan

Oiso, Naoki, Suzuki, Tamio, Wataya-kaneda, Mari, Tanemura, Atsushi, Tanioka, Miki, Fujimoto, Tomoko, Fukai, Kazuyoshi, Kawakami, Tamihiro, Tsukamoto, Katsuhiko, Yamaguchi, Yuji, Sano, Shigetoshi, Mits

Journal:

The Journal of Dermatology

Year:

2013

Language:

english

File:

PDF, 382 KB

english, 2013

5

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard G. Weleber

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

6

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

Mohammad A. Karim, Koji Suzuki, Kazuyoshi Fukai, Jangsuk Oh, Deborah L. Nagle, Karen J. Moore, Ernest Barbosa, Tzipora Falik-Borenstein, Alexandra Filipovich, Yasushi Ishida, Sirpa Kivrikko, Christoph

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

7

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Keiko Akahoshi, Richard A. Spritz, Kazuyoshi Fukai, Norimasa Mitsui, Kazushige Matsushima, Hirofumi Ohashi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

8

Phakomatosis Pigmentovascularis Type IIIb Associated with Moyamoya Disease

Daisuke Tsuruta, Kazuyoshi Fukai, Masumi Seto, Ken Fujitani, Kisa Shindo, Toshio Hamada, Masamitsu Ishii

Journal:

Pediatric Dermatology

Year:

1999

Language:

english

File:

PDF, 591 KB

english, 1999

9

Organization and Nucleotide Sequence of the Human Hermansky-Pudlak Syndrome (HPS) Gene

Bailin, Tu, Oh, Jangsuk, Feng, Guo Hong, Fukai, Kazuyoshi, Spritz, Richard A

Journal:

The Journal of Investigative Dermatology

Year:

1997

File:

PDF, 1.68 MB

1997

10

Polymorphisms in the Promoter of the Interleukin-4 Receptor alpha Chain Gene Are Associated with Atopic Dermatitis in Japan

Hosomi, Naoko, Fukai, Kazuyoshi, Oiso, Naoki, Kato, Atsushi, Ishii, Masamitsu, Kunimoto, Hiroyuki, Nakajima, Koichi

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

11

Mutation Analysis of the ADAR1 Gene in Dyschromatosis Symmetrica Hereditaria and Genetic Differentiation from both Dyschromatosis Universalis Hereditaria and Acropigmentatio Reticularis

Suzuki, Noriyuki, Suzuki, Tamio, Inagaki, Katsuhiko, Ito, Shiro, Kono, Michihiro, Fukai, Kazuyoshi, Takama, Hiromichi, Sato, Kenji, Ishikawa, Osamu, Abe, Masatoshi, Shimizu, Hiroshi, Kawai, Masaaki, H

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 2.27 MB

english, 2005

12

Triple allergic contact sensitivities due to ferbinac, crotamiton and diisopropanolamine

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2003

Language:

english

File:

PDF, 797 KB

english, 2003

13

Concomitant allergic reaction to cetyl alcohol and crotamiton

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2003

Language:

english

File:

PDF, 797 KB

english, 2003

14

Allergic contact dermatitis due to methyl salicylate in a compress

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2004

Language:

english

File:

PDF, 2.63 MB

english, 2004

15

Allergic contact dermatitis due to 1,3-butylene glycol in medicaments

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2004

Language:

english

File:

PDF, 2.63 MB

english, 2004

16

Metal allergy to implanted orthopaedic prosthesis after postoperative Staphylococcus aureus infection

Naoki Oiso, Takeshi Komeda, Kazuyoshi Fukai, Masamitsu Ishii, Toshiyuki Hirai, Atsuo Kugai

Journal:

Contact Dermatitis

Year:

2004

Language:

english

File:

PDF, 1.96 MB

english, 2004

17

Irritant contact dermatitis from benzalkonium chloride in shampoo

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2005

Language:

english

File:

PDF, 2.64 MB

english, 2005

18

Jellyfish dermatitis caused by Porpita pacifica, a sign of global warming?

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii, Takeshi Ohgushi, Shin Kubota

Journal:

Contact Dermatitis

Year:

2005

Language:

english

File:

PDF, 1.91 MB

english, 2005

19

Allergic contact dermatitis from iodine in a topical ointment

Naoki Oiso, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2006

Language:

english

File:

PDF, 244 KB

english, 2006

20

Case of cheilitis granulomatosa associated with apical periodontitis

Tomoko KAWAKAMI, Kazuyoshi FUKAI, Junko SOWA, Masamitsu ISHII, Hiroyuki TERAMAE, Koutetsu KANAZAWA

Journal:

The Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 1.31 MB

english, 2008

21

Rapid detection of Bartonella henselae heat shock protein DNA by nested polymerase chain reaction from swollen lymph nodes of a patient with cat-scratch disease

Ayano UMEKOJI, Kazuyoshi FUKAI, Shigeto YANAGIHARA, Eri ONO, Junko SOWA, Masamitsu ISHII

Journal:

The Journal of Dermatology

Year:

2009

Language:

english

File:

PDF, 226 KB

english, 2009

22

Two cases of infantile linear immunoglobulin A/immunoglobulin G bullous dermatosis

Yoshie KANAYAMA, Daisuke TSURUTA, Chiharu TATEISHI, Yuiko HASEGAWA, Kiyoko AMO, Kazuyoshi FUKAI, Hiromi KOBAYASHI, Masamitsu ISHII

Journal:

The Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

23

Cellular Angioma of Infancy With Dermal Melanocytosis

Hiromi Kobayashi, Masayoshi Furukawa, Kazuyoshi Fukai, Masamitsu Ishii, Toshio Hamada, Amir H. Mehregan

Journal:

International Journal of Dermatology

Year:

1988

Language:

english

File:

PDF, 3.58 MB

english, 1988

24

Generalized pustular psoriasis precipitated by topical calcipotriol ointment

Hisashi Tamiya, Kazuyoshi Fukai, Keiko Moriwaki, Masamitsu Ishii

Journal:

International Journal of Dermatology

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

25

Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis

Naoko Hosomi, Kazuyoshi Fukai, Akemi Tanaka, Hiroko Fujita, Masamitsu Ishii

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

26

Severe dermatitis mimicking deep vein thrombosis caused by hexyldecanol

Shigeto Yanagihara, Daisuke Tsuruta, Kazuyoshi Fukai, Masamitsu Ishii

Journal:

Contact Dermatitis

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

27

OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean

Katsuhiko Inagaki, Tamio Suzuki, Shiro Ito, Noriyuki Suzuki, Kazuyoshi Fukai, Toshiyuki Horiuchi, Toshihiko Tanaka, Etsuko Manabe, Yasushi Tomita

Journal:

Pigment Cell & Melanoma Research

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

28

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Fukai, Kazuyoshi, Holmes, Stuart A., Lucchese, Neil J., Mok Siu, Victoria, Weleber, Richard G., Schnur, Rhonda E., Spritz, Richard A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 478 KB

1995

29

Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles

Oh, Jangsuk, Bailin, Tu, Fukai, Kazuyoshi, Feng, Guo Hong, Ho, Lingling, Mao, Jen-i, Frenk, Edgar, Tamura, Naoaki, Spritz, Richard A.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 789 KB

1996

30

TIE2Gain-of-Function Mutation in a Patient with Pancreatic Lymphangioma Associated with Blue Rubber-Bleb Nevus Syndrome: Report of a Case

Yasuyuki Nobuhara, Naoyoshi Onoda, Kazuyoshi Fukai, Naoko Hosomi, Masamitsu Ishii, Kenichi Wakasa, Tamahiro Nishihara, Tetsuro Ishikawa, Kosei Hirakawa

Journal:

Year:

2006

Language:

english

File:

PDF, 239 KB

english, 2006

31

Piebaldism

Naoki OISO, Kazuyoshi FUKAI, Akira KAWADA, Tamio SUZUKI

Journal:

The Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 361 KB

english, 2012

32

Nevus Depigmentosus Systematicus With Partial Yellow Scalp Hair Due to Selective Suppression of Eumelanogenesis

Kazuyoshi Fukai, Masamitsu Ishii, Atsuko Kadoya, Toshio Hamada, Kazumasa Wakamatsu, Sbosuke Ito

Journal:

Pediatric Dermatology

Year:

1993

Language:

english

File:

PDF, 1.25 MB

english, 1993

33

Organization and sequence of the human P gene and identification of a new family of transport proteins

Seung-Taek Lee, Robert D. Nicholls, Michelle T.C. Jong, Kazuyoshi Fukai, Richard A. Spritz

Journal:

Year:

1995

Language:

english

File:

PDF, 1020 KB

english, 1995

34

A novel KIT mutation results in piebaldism with progressive depigmentation

Kristen A. Richards, Kazuyoshi Fukai, Naoki Oiso, Amy S. Paller

Journal:

Journal of the American Academy of Dermatology

Year:

2001

Language:

english

File:

PDF, 134 KB

english, 2001

35

Pediatric case report: Clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene

Tomoko Oshimo, Kazuyoshi Fukai, Yuko Abe, Yutaka Hozumi, Toshiaki Yokoi, Akemi Tanaka, Kiyofumi Yamanishi, Masamitsu Ishii, Tamio Suzuki

Journal:

The Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 209 KB

english, 2012

36

New KIT mutations in patients with piebaldism

Murakami, Tomoko, Fukai, Kazuyoshi, Oiso, Naoki, Hosomi, Naoko, Kato, Atsushi, Garganta, Cheryl, Barnicoat, Angela, Poppelaars, Francis, Aquaron, Robert, Paller, Amy S, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

37

Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation

Hosomi, Naoko, Oiso, Naoki, Fukai, Kazuyoshi, Hanada, Kazushi, Fujita, Hiroko, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2007

Language:

english

File:

PDF, 526 KB

english, 2007

38

A novel LMX1B nonsense mutation in a family with nail-patella syndrome

Oshimo, Tomoko, Fukai, Kazuyoshi, Higashi, Nobuhiko, Kitano, Toshio, Imai, Yuuki, Shintaku, Haruo, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2008

Language:

english

File:

PDF, 1.24 MB

english, 2008

39

High 8-dehydrocholesterol level in a typical case of Conradi–Hunermann–Happle syndrome with a novel H76Y missense mutation

Umekoji, Ayano, Fukai, Kazuyoshi, Kasama, Takeshi, Yokoi, Toshiaki, Saito, Mika, Tsuruhara, Akitoshi, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2008

Language:

english

File:

PDF, 446 KB

english, 2008

40

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Five novel mutations of the ADAR1 gene

Murata, Ichidai, Hayashi, Masahiro, Hozumi, Yutaka, Fujii, Kazuyasu, Mitsuhashi, Yoshihiko, Oiso, Naoki, Fukai, Kazuyoshi, Kuroki, Nozomi, Mori, Yasuki, Utani, Atsushi, Tomita, Yasushi, Fujita, Yasuyu

Journal:

Journal of Dermatological Science

Year:

2010

Language:

english

File:

PDF, 2.07 MB

english, 2010

41

Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Kawaguchi, Masakazu, Hayashi, Masahiro, Murata, Ichidai, Hozumi, Yutaka, Suzuki, Noriyuki, Ishii, Yoshiyuki, Wataya-Kaneda, Mari, Funasaka, Yoko, Kawakami, Tamihiro, Fukai, Kazuyoshi, Ochiai, Toyoko,

Journal:

Journal of Dermatological Science

Year:

2012

Language:

english

File:

PDF, 105 KB

english, 2012

42

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

Kato, Atsushi, Fukai, Kazuyoshi, Oiso, Naoki, Hosomi, Naoko, Saitoh, Shinji, Wada, Takahito, Shimizu, Hiroshi, Ishii, Masamitsu

Journal:

Journal of Dermatological Science

Year:

2003

Language:

english

File:

PDF, 232 KB

english, 2003

43

Immunohistochemical localization of lysyl oxidase in normal human skin

Kobayashi, Hiromi, Chanoki, Miyako, Fushida, Hiroyo, Yashiro, Noriko, Fukai, Kazuyoshi, Maekawa, Naoki, Kono, Takeshi, Ishii, Masamitsu, Hamada, Toshio, Ooshima, Akira

Journal:

Journal of Dermatological Science

Year:

1991

Language:

english

File:

PDF, 119 KB

english, 1991

44

OCA2 polymorphisms are associated with skin color and risk of skin cancer in Japanese population

Yoshizawa, Junko, Abe, Yuko, Hozumi, Yutaka, Oiso, Naoki, Narita, Tomohiko, Kawada, Akira, Fukai, Kazuyoshi, Motokawa, Tomonori, Nakamura, Tomohiro, Tamiya, Gen, Suzuki, Tamio

Journal:

Journal of Dermatological Science

Year:

2013

Language:

english

File:

PDF, 69 KB

english, 2013

45

Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha

Tanaka, Akemi, Takeda, Taisuke, Hoshina, Takao, Fukai, Kazuyoshi, Yamano, Tsunekazu

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 281 KB

english, 2010

46

Nevus depigmentosus with pale skin, yellow-brown hair and a light brown iris

Naoki Oiso,Norimasa Nomi,Kazuyoshi Fukai…

Journal:

European Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 602 KB

english, 2014

47

Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations

Yoshizawa, Junko, Abe, Yuko, Oiso, Naoki, Fukai, Kazuyoshi, Hozumi, Yutaka, Nakamura, Tomohiro, Narita, Tomohiko, Motokawa, Tomonori, Wakamatsu, Kazumasa, Ito, Shosuke, Kawada, Akira, Tamiya, Gen, Suz

Journal:

The Journal of Dermatology

Year:

2014

Language:

english

File:

PDF, 143 KB

english, 2014

48

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3

Fukai, Kazuyoshi, Oh, Jangsuk, Frenk, Edgar, Almodóvar, Carmelo, Spritz, Richard A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.52 MB

english, 1995

49

An immune pathological and ultrastructural skin analysis for rhododenol-induced leukoderma patients

Tanemura, Atsushi, Yang, Lingli, Yang, Fei, Nagata, Yuiko, Wataya-Kaneda, Mari, Fukai, Kazuyoshi, Tsuruta, Daisuke, Ohe, Rintaro, Yamakawa, Mitsunori, Suzuki, Tamio, Katayama, Ichiro

Journal:

Journal of Dermatological Science

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

50

Nonsegmental Vitiligo and Autoimmune Mechanism

Oiso, Naoki, Suzuki, Tamio, Fukai, Kazuyoshi, Katayama, Ichiro, Kawada, Akira

Journal:

Dermatology Research and Practice

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

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