Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

被引：199

作者：

Hart, PS

Hart, TC

Michalec, MD

Ryu, OH

Simmons, D

Hong, S

Wright, JT

机构：

[1] Univ N Carolina, Sch Dent, Dept Pediat Dent, Chapel Hill, NC USA

[2] Univ Pittsburgh, Pittsburgh, PA 15260 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 07期

关键词：

D O I：

10.1136/jmg.2003.017657

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：545 / 549

页数：5

共 42 条

[11] ENAMELINS IN THE NEWLY FORMED BOVINE ENAMEL [J].

FUKAE, M ;

TANABE, T ;

UCHIDA, T ;

YAMAKOSHI, Y ;

SHIMIZU, M .

CALCIFIED TISSUE INTERNATIONAL, 1993, 53 (04) :257-261

[12] Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature [J].

Hart, PS ;

Michalec, MD ;

Seow, WK ;

Hart, TC ;

Wright, JT .

ARCHIVES OF ORAL BIOLOGY, 2003, 48 (08) :589-596

[13] Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency [J].

Holzinger, A ;

Maier, EM ;

Bück, C ;

Mayerhofer, PU ;

Kappler, M ;

Haworth, JC ;

Moroz, SP ;

Hadorn, HB ;

Sadler, JE ;

Roscher, AA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :20-25

[14] Murine Enamelin: cDNA and Derived Protein Sequences [J].

Hu, C. -C. ;

Simmer, J. P. ;

Bartlett, J. D. ;

Qian, Q. ;

Zhang, C. ;

Ryu, O. H. ;

Xue, J. ;

Fukae, M. ;

Uchida, T. ;

MacDougall, M. .

CONNECTIVE TISSUE RESEARCH, 1998, 39 (1-3) :47-61

[15] Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development [J].

Hu, CC ;

Hart, TC ;

Dupont, BR ;

Chen, JJ ;

Sun, X ;

Qian, Q ;

Zhang, CH ;

Jiang, H ;

Mattern, VL ;

Wright, JT ;

Simmer, JP .

JOURNAL OF DENTAL RESEARCH, 2000, 79 (04) :912-919

[16] A comparison of enamelin and amelogenin expression in developing mouse molars [J].

Hu, JCC ;

Sun, XL ;

Zhang, CH ;

Simmer, JP .

EUROPEAN JOURNAL OF ORAL SCIENCES, 2001, 109 (02) :125-132

[17] Expression and localization of tissue kallikrein mRNAs in human epidermis and appendages [J].

Komatsu, N ;

Takata, M ;

Otsuki, N ;

Toyama, T ;

Ohka, R ;

Takehara, K ;

Saijoh, K .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (03) :542-549

[18]

Krebsbach PH, 1996, J BIOL CHEM, V271, P4431

[19] Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation [J].

Molinari, F ;

Rio, M ;

Meskenaite, V ;

Encha-Razavi, F ;

Augé, J ;

Bacq, D ;

Briault, S ;

Vekemans, M ;

Munnich, A ;

Attié-Bitach, T ;

Sonderegger, P ;

Colleaux, L .

SCIENCE, 2002, 298 (5599) :1779-1781

[20] Kallikrein 4 (KLK4), a new member of the human kallikrein gene family is upregulated by estrogen and progesterone in the human endometrial cancer cell line, KLE. [J].

Myers, SA ;

Clements, JA .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (05) :2323-2326

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