Hypohidrotic ectodermal dysplasia with hypothyroidism

Pabst, Henry F.; Groth, O; McCoy, Ernest E.

doi:10.1016/s0022-3476(81)80639-7

Cited by 23 publications

(11 citation statements)

References 6 publications

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“…HED-ID is characterized by impaired skin appendage development and severe immune deficiency. Strikingly, hypothyroidism is not uncommon in patients with HED-ID (35)(36)(37)(38), as predicted by the data we show here.…”

Section: Discussionsupporting

confidence: 88%

NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function

Reale

Iervolino

Scudiero

et al. 2016

Journal of Biological Chemistry

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The I-B kinase (IKK) subunit NEMO/IKK␥ (NEMO) is an adapter molecule that is critical for canonical activation of NF-B, a pleiotropic transcription factor controlling immunity, differentiation, cell growth, tumorigenesis, and apoptosis. To explore the functional role of canonical NF-B signaling in thyroid gland differentiation and function, we have generated a murine strain bearing a genetic deletion of the NEMO locus in thyroid. Here we show that thyrocyte-specific NEMO knock-out mice gradually develop hypothyroidism after birth, which leads to reduced body weight and shortened life span. Histological and molecular analysis indicate that absence of NEMO in thyrocytes results in a dramatic loss of the thyroid gland cellularity, associated with down-regulation of thyroid differentiation markers and ongoing apoptosis. Thus, NEMO-dependent signaling is essential for normal thyroid physiology.

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Section: Discussionsupporting

confidence: 88%

NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function

Reale

Iervolino

Scudiero

et al. 2016

Journal of Biological Chemistry

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“…Structural and biochemical characteristics of hair have also been studied. [19] Other diagnostic criteria include dermatoglyphic analysis, characteristics of lacrimal secretion, and distribution and pattern of scalp hair. [20]…”

Section: Discussionmentioning

confidence: 99%

Christ–Siemens–Touraine syndrome: A rare case report

et al. 2019

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Christ–Siemens–Touraine syndrome/hypohidrotic ectodermal dysplasia (HED) is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail, and sweat glands. To date, more than 192 distinct disorders have been described. Here we present a case of 19-year-old female patient that manifested with HED (Christ-Siemens-Touraine syndrome).

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“…3) and to those found in NEMOTS-KO thyrocytes undergoing progressive apoptosis after birth [20]. Moreover, patients with hypohydrotic ectodermal dysplasia develop primary hypothyroidism in infancy [21][22][23].…”

Section: Discussionmentioning

confidence: 82%

“…Hypomorphic NEMO mutations have been recognized in children with hypohydrotic ectodermal dysplasia which is clinically characterized by impaired skin development, severe immune, and primary hypothyroidism. These mutations are believed to reduce rather than abolish NF-kB activation [21][22][23]. These clinical studies report 3 boys and only 1 girl with hypohidrotic ectodermal dysplasia and primary hypothyroidism which was diagnosed between 2 and 4 years of age.…”

Section: Discussionmentioning

confidence: 97%

Identification of <b><i>Transient Receptor Potential Channel 4-Associated Protein</i></b> as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

et al. 2020

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Background: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. Methods: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico prediction tools. The most promising candidate gene, transient receptor potential channel 4-associated protein (TRPC4AP), was sequenced in 179 further patients with TD. Expression of TRPC4AP in human thyroid was investigated using RT-PCR. Trpc4ap-functional analysis was performed in Xenopus laevis using Morpholino (MO) antisense oligomers. Results: WES identified a likely damaging mutation in TRPC4AP leading to a de novo stop codon p.

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Hypohidrotic ectodermal dysplasia with hypothyroidism

Cited by 23 publications

References 6 publications

NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function

NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function

Christ–Siemens–Touraine syndrome: A rare case report

Identification of <b><i>Transient Receptor Potential Channel 4-Associated Protein</i></b> as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

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