Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix

March 2003 in “ Clinical and Experimental Dermatology ”

Karima Djabali, Andrey A. Panteleyev, T. Waran Lalin, María C. Garzon, B. Jack Longley, David R. Bickers, Abraham Zlotogorski, Angela M. Christiano

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research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

research The Catalog of Human Hair Keratins

272 citations , September 2001 in “Journal of Biological Chemistry”

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

32 citations , January 2000 in “Human Heredity”

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

29 citations , August 1999 in “Journal of Investigative Dermatology”

research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

34 citations , November 1998 in “Journal of Investigative Dermatology”

research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression

26 citations , October 1998 in “Experimental Dermatology”

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

100 citations , November 1997 in “Human Genetics”

research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity

21 citations , September 1997 in “British Journal of Dermatology”

research Monilethrix: an ultrastructural study

34 citations , December 1984 in “Journal of Cutaneous Pathology”