Kobielak A - Search Results

1

Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors.

Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Wiśniewski SA, et al. Among authors: kobielak a, kobielak k. J Appl Genet. 2002;43(1):97-107. J Appl Genet. 2002. PMID: 12084975 Review.

2

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.

Kobielak A, Kobielak K, Biedziak B, Trzeciak WH. Kobielak A, et al. Among authors: kobielak k. Acta Biochim Pol. 2003;50(1):255-8. Acta Biochim Pol. 2003. PMID: 12673367

3

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.

Kobielak K, Kobielak A, Limon J, Trzeciak WH. Kobielak K, et al. Among authors: kobielak a. Acta Biochim Pol. 1998;45(1):245-50. Acta Biochim Pol. 1998. PMID: 9701517

4

Correcting facial dysmorphism in a patient with anhidrotic ectodermal dysplasia: a clinical report.

Lakomski J, Kobielak K, Kobielak A, Trzeciak WH. Lakomski J, et al. Among authors: kobielak a, kobielak k. J Prosthet Dent. 1998 Nov;80(5):524-6. doi: 10.1016/s0022-3913(98)70026-5. J Prosthet Dent. 1998. PMID: 9813800 No abstract available.

5

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak WH. Kobielak K, et al. Among authors: kobielak a. Am J Med Genet. 2001 May 1;100(3):191-7. Am J Med Genet. 2001. PMID: 11343303

6

Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia.

Kobielak A, Kobielak K, Wiśniewski SA, Midro AT, Trzeciak WH. Kobielak A, et al. Among authors: kobielak k. Folia Histochem Cytobiol. 2001;39(2):113-4. Folia Histochem Cytobiol. 2001. PMID: 11374782

7

Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition.

Mostowska A, Kobielak A, Trzeciak WH. Mostowska A, et al. Among authors: kobielak a. Eur J Oral Sci. 2003 Oct;111(5):365-70. doi: 10.1034/j.1600-0722.2003.00069.x. Eur J Oral Sci. 2003. PMID: 12974677 Review.

8

Cloning of the lymphoid enhancer binding factor-1 (Lef-1) cDNA from rat kidney: homology to the mouse sequence.

Kobielak K, Kobielak A, Trzeciak WH. Kobielak K, et al. Among authors: kobielak a. Acta Biochim Pol. 1999;46(4):885-8. Acta Biochim Pol. 1999. PMID: 10824856

9

The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis.

Kobielak A, Kobielak K, Wiśniewski AS, Mostowska A, Biedziak B, Trzeciak WH. Kobielak A, et al. Among authors: kobielak k. Folia Histochem Cytobiol. 2001;39(2):111-2. Folia Histochem Cytobiol. 2001. PMID: 11374781 Review.

10

A novel isoform of human lymphoid enhancer-binding factor-1 (LEF-1) gene transcript encodes a protein devoid of HMG domain and nuclear localization signal.

Kobielak A, Kobielak K, Trzeciak WH. Kobielak A, et al. Among authors: kobielak k. Acta Biochim Pol. 2001;48(1):221-6. Acta Biochim Pol. 2001. PMID: 11440173

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