These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 22044263)

  • 21. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
    Tanahashi K; Sugiura K; Takeichi T; Takama H; Shinkuma S; Shimizu H; Akiyama M
    J Eur Acad Dermatol Venereol; 2013 Sep; 27(9):1182-4. PubMed ID: 22449147
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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.
    Ito T; Shimomura Y; Hayashi R; Tokura Y
    J Dermatol; 2015 Jul; 42(7):752-3. PubMed ID: 25899282
    [No Abstract]   [Full Text] [Related]  

  • 23. Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.
    Takeichi T; Tanahashi K; Taki T; Kono M; Sugiura K; Akiyama M
    Br J Dermatol; 2017 Jul; 177(1):290-292. PubMed ID: 27641630
    [No Abstract]   [Full Text] [Related]  

  • 24. 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 R; Inoue A; Suga Y; Aoki J; Shimomura Y
    J Dermatol Sci; 2015 Jun; 78(3):197-205. PubMed ID: 25828854
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
    Naz G; Khan B; Ali G; Azeem Z; Wali A; Ansar M; Ahmad W
    J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
    Lv H; Li M; Cheng R
    J Dermatol; 2020 Dec; 47(12):1445-1449. PubMed ID: 32901930
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
    Ahmad F; Sharif S; Furqan Ubaid M; Shah K; Khan MN; Umair M; Azeem Z; Ahmad W
    Congenit Anom (Kyoto); 2018 Jan; 58(1):24-28. PubMed ID: 28425126
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
    Yoshimasu T; Kanazawa N; Kambe N; Nakamura M; Furukawa F
    J Dermatol; 2011 Sep; 38(9):900-4. PubMed ID: 21352330
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.
    Shinkuma S; Inoue A; Aoki J; Nishie W; Natsuga K; Ujiie H; Nomura T; Abe R; Akiyama M; Shimizu H
    J Invest Dermatol; 2012 Aug; 132(8):2093-5. PubMed ID: 22475755
    [No Abstract]   [Full Text] [Related]  

  • 30. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
    Kazantseva A; Goltsov A; Zinchenko R; Grigorenko AP; Abrukova AV; Moliaka YK; Kirillov AG; Guo Z; Lyle S; Ginter EK; Rogaev EI
    Science; 2006 Nov; 314(5801):982-5. PubMed ID: 17095700
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
    Chang XD; Gu YJ; Dai S; Chen XR; Zhang CL; Zhao HS; Song QH
    Mutagenesis; 2017 Dec; 32(6):599-606. PubMed ID: 29346610
    [TBL] [Abstract][Full Text] [Related]  

  • 32. In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
    Pasternack SM; von Kügelgen I; Müller M; Oji V; Traupe H; Sprecher E; Nöthen MM; Janecke AR; Betz RC
    J Invest Dermatol; 2009 Dec; 129(12):2772-6. PubMed ID: 19536142
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Keratin disorders: from gene to therapy.
    McLean WH; Moore CB
    Hum Mol Genet; 2011 Oct; 20(R2):R189-97. PubMed ID: 21890491
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
    Shimomura Y; Wajid M; Petukhova L; Shapiro L; Christiano AM
    J Invest Dermatol; 2009 Mar; 129(3):622-8. PubMed ID: 18830268
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular genetics of alopecias.
    Ramot Y; Zlotogorski A
    Curr Probl Dermatol; 2015; 47():87-96. PubMed ID: 26370647
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
    Kinoshita-Ise M; Kubo A; Sasaki T; Umegaki-Arao N; Amagai M; Ohyama M
    Br J Dermatol; 2017 Jan; 176(1):138-144. PubMed ID: 27375176
    [TBL] [Abstract][Full Text] [Related]  

  • 37. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.
    Zlotogorski A; Marek D; Horev L; Abu A; Ben-Amitai D; Gerad L; Ingber A; Frydman M; Reznik-Wolf H; Vardy DA; Pras E
    J Invest Dermatol; 2006 Jun; 126(6):1292-6. PubMed ID: 16575393
    [TBL] [Abstract][Full Text] [Related]  

  • 38. More than one gene involved in monilethrix: intracellular but also extracellular players.
    Schweizer J
    J Invest Dermatol; 2006 Jun; 126(6):1216-9. PubMed ID: 16702971
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis.
    Sleiman MB; Sleiman MB; Abbas O; Btadini W; Najjar T; Tofaili M; Chedraoui A; Khalil S; Kibbi AG; Kurban M
    J Dermatol; 2015 Aug; 42(8):822-4. PubMed ID: 26046953
    [No Abstract]   [Full Text] [Related]  

  • 40. Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
    Redler S; Kruse R; Eigelshoven S; Hanneken S; Refke M; Wen Y; Zhang X; Cichon S; Betz RC; Nöthen MM
    J Am Acad Dermatol; 2011 Apr; 64(4):e45-50. PubMed ID: 20659777
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.