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A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed

2 citations , September 2020 in “Schweizer Archiv für Tierheilkunde”

Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.

research S100A4/Nonmuscle Myosin IIA/p53 Axis Contributes to Aggressive Features in Ovarian High-Grade Serous Carcinoma

32 citations , August 2020 in “American Journal Of Pathology”

S100A4 promotes aggressive ovarian cancer and is a potential treatment target.

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

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

LncRNAs in Secondary Hair Follicle of Cashmere Goat: Identification, Expression, and Their Regulatory Network in Wnt Signaling Pathway

research LncRNAs in Secondary Hair Follicle of Cashmere Goat: Identification, Expression, and Their Regulatory Network in Wnt Signaling Pathway

25 citations , August 2017 in “Animal Biotechnology”

Researchers found that certain RNA molecules might play a role in the growth of Cashmere goat hair.

research Effects of FGF5-mediated LncRNA on the skin fibroblast growth of Liaoning Cashmere goats

July 2023 in “Indian Journal of Animal Health”

FGF-5 promotes Cashmere goat hair growth by increasing keratin genes and reducing certain LncRNA and target genes.

research BUZZ: an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon

July 2023 in “New phytologist”

The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.

research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

13 citations , August 2005 in “Journal of Investigative Dermatology Symposium Proceedings”

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

80 citations , June 1997 in “The American Journal of Human Genetics”

research Presence of Uterine Leiomyomas Has No Significant Impact on Gene Expression Profile in the Scalp of Patients with Central Centrifugal Cicatricial Alopecia

2 citations , October 2021 in “JID innovations”

Uterine leiomyomas don't significantly change gene expression in the scalp of people with Central Centrifugal Cicatricial Alopecia.

research Lectin‐binding profiles for normal skin appendages and their tumors

18 citations , December 1992 in “Journal of Cutaneous Pathology”

Skin tumors and normal skin structures have different lectin-binding patterns.

research A Unique Type I Keratin Intermediate Filament Gene Family is Abundantly Expressed in the Inner Root Sheaths of Sheep and Human Hair Follicles

41 citations , January 2001 in “Journal of Investigative Dermatology”

Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.

62 citations , January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.

research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype

December 2020 in “Research Square (Research Square)”

A genetic change in the FGF5 gene affects hair growth in cashmere goats.

research Evolutionary Trees of Intermediate Filament Proteins

3 citations , January 1988

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research Genome-wide identification, characterization, and expression analysis of keratin genes (KRTs) family in yak (Bos grunniens)

6 citations , January 2022 in “Gene”

Scientists found 53 keratin genes in yaks that are important for hair growth and share similarities with those in other animals.

research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases

47 citations , July 2023 in “Nature Genetics”

research Localization of S100A2, S100A4, S100A6, S100A7, and S100P in the human hair follicle.

9 citations , July 2014 in “PubMed”

Different S100 proteins have specific roles in various parts of the hair follicle.

research Identification of Trichohyalin-Like 1, an S100 Fused-Type Protein Selectively Expressed in Hair Follicles

27 citations , May 2011 in “Journal of Investigative Dermatology”

TCHHL1 is a protein important for hair growth, found in hair follicles.

Follistatin and Secreted Frizzled-Related Protein 1, OVOL1-Regulated Genes, Are Important for Hair Follicle Neogenesis

research Follistatin and secreted frizzled-related protein 1, OVO homolog-like 1-regulated genes, are important for hair follicle neogenesis

4 citations , April 2015 in “Experimental Dermatology”

Certain genes controlled by OVOL1 are crucial for creating new hair follicles.

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