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A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

3 citations , December 2013 in “Balkan Journal of Medical Genetics”

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

research Localization and Regulation of Expression of the FAR-17A Gene in the Hamster Flank Organs

16 citations , July 1996 in “Journal of Investigative Dermatology”

research Clinical and molecular genetic studies in hereditary hair loss

August 2021

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle

1 citations , February 1991 in “Journal of Biological Chemistry”

Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

7 citations , May 2019 in “European Journal of Human Genetics”

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis

February 2022 in “Research Square (Research Square)”

High TSPEAR levels in colorectal cancer predict worse outcomes.

BRCA2 in Abscission: Role in Cytokinesis and Recruitment of Abscission Regulators

research BRCA2 in abscission

August 2012 in “Nature Cell Biology”

The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.

research PAK4 signaling in health and disease: defining the PAK4–CREB axis

81 citations , February 2019 in “Experimental & Molecular Medicine”

PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis

January 2022 in “Research Square (Research Square)”

High TSPEAR levels in colorectal cancer predict worse outcomes.

research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice

7 citations , August 2008 in “Immunogenetics”

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

372 citations , December 2004 in “Nature Genetics”

research Hair-specific expression of chloramphenicol acetyltransferase in transgenic mice under the control of an ultra-high-sulfur keratin promoter.

33 citations , September 1990 in “Proceedings of the National Academy of Sciences”

The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.

research The Muscarinic Acetylcholine Receptor in Dermal Papilla Cells Regulates Hair Growth

February 2026 in “International Journal of Molecular Sciences”

Muscarinic acetylcholine receptors in skin cells help regulate and promote hair growth.

research Spatial transcriptomics of a giant pilomatricoma

1 citations , August 2023 in “Journal of cutaneous pathology”

The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.

research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles

January 2004 in “Molecular biotechnology”

research The clock gene brain and muscle Arnt-like protein-1 (BMAL1) is involved in hair growth

9 citations , August 2013 in “Archives of Dermatological Research”

A gene called BMAL1 plays a role in controlling hair growth.

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

37 citations , January 1993 in “Journal of Investigative Dermatology”

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

5 citations , October 2021 in “American Journal of Medical Genetics Part A”

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

research Functional mapping of the mouse hairless gene promoter region

January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

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Research

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

research Localization and Regulation of Expression of the FAR-17A Gene in the Hamster Flank Organs

research Clinical and molecular genetic studies in hereditary hair loss

research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle

research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis

research BRCA2 in abscission

research PAK4 signaling in health and disease: defining the PAK4–CREB axis

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis

research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

research Hair-specific expression of chloramphenicol acetyltransferase in transgenic mice under the control of an ultra-high-sulfur keratin promoter.

research The Muscarinic Acetylcholine Receptor in Dermal Papilla Cells Regulates Hair Growth

research Spatial transcriptomics of a giant pilomatricoma

research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles

research The clock gene brain and muscle Arnt-like protein-1 (BMAL1) is involved in hair growth

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

research MicroRNA-149-Mediated MAPK1/ERK2 Suppression Attenuates Hair Follicle Stem Cell Differentiation

research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia

research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation

research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality

research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB

research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

research Functional mapping of the mouse hairless gene promoter region

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy