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research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

January 2017

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome

5 citations , June 2020 in “Medicine”

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

37 citations , August 2011 in “Journal of Bone and Mineral Research”

A girl had rickets due to a gene mutation affecting vitamin D response.

research Matriptase-2, A Novel Suppressor of Hepcidin.

November 2009 in “Blood”

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.

research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer

2 citations , October 2023 in “Cancer Reports”

Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.

research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel

January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)”

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

2 citations , January 2024 in “Revista Paulista de Pediatria”

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population

21 citations , March 2015 in “Neurological Sciences”

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

research Muir-torre syndrome in two families in Leicestershire, United Kingdom

March 2005 in “Journal of the American Academy of Dermatology”

Recognizing minor skin lesions can help identify serious cancer syndromes.

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother

January 2024 in “Archives of Endocrinology and Metabolism”

A new gene mutation causes insulin resistance in a girl and her mother.

research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.

52 citations , July 2011 in “PubMed”

TRPS1 is crucial for bone, kidney, and hair follicle development.

research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON

June 2020 in “Zenodo (CERN European Organization for Nuclear Research)”

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells

8 citations , June 2001 in “Journal of Biological Chemistry”

A truncated protein linked to breast cancer may change cell adhesion.

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

6 citations , May 2012 in “Archives of Dermatological Research”

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12

17 citations , August 2015 in “Journal of Animal Science”

The MTR gene affects wool quality and production in Chinese Merino sheep.

research LncRNA MTC enhances the proliferation of Liaoning cashmere goat skin fibroblasts by modulating GSTM1-ASK1 interaction

March 2024 in “Cytologia”

LncRNA MTC boosts growth of goat skin cells, improving cashmere quality.

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

January 2017

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , January 2011 in “生物医学研究杂志：英文版”

A new mutation in the KRT86 gene causes monilethrix in a Han family.

research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis

3 citations , April 2012 in “Bioinformation”

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

53 citations , January 2011 in “Diabetes”

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.

research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters

1 citations , July 2023 in “Nature communications”

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters

November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

MOF controls skin development by regulating genes for mitochondria and cilia.

A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».

January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)”

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

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Research

research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

research Matriptase-2, A Novel Suppressor of Hepcidin.

research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer

research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel

research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population

research Muir-torre syndrome in two families in Leicestershire, United Kingdom

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother

research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.

research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON

research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12

research LncRNA MTC enhances the proliferation of Liaoning cashmere goat skin fibroblasts by modulating GSTM1-ASK1 interaction

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis

research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters

research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters

research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor

research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».